nsv443003
- Organism: Homo sapiens
- Study:nstd23 (Young et al. 2008)
- Variant Type:complex substitution
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:25
- Validation:Yes
- Clinical Assertions: No
- Region Size:93,238
- Description:Fosmids AC193142 and AC210900 contain complex alternate structure, with four deletions and with inversions
- Publication(s):Young et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2679 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2684 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 929 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv443003 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nsv443003 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nsv443003 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv1671957 | deletion | GM01806 | Sequencing | Sequence alignment | 0 | |
nssv1671960 | deletion | GM10540 | Sequencing | Sequence alignment | 0 | nssv1672054 |
nssv1671961 | deletion | GM10541 | Sequencing | Sequence alignment | 0 | nssv1671927, nssv1671945 |
nssv1671962 | deletion | GM10543 | Sequencing | Sequence alignment | 0 | nssv1671918, nssv1672033, nssv1672053 |
nssv1671963 | deletion | GM10976 | Sequencing | Sequence alignment | 0 | 5 |
nssv1671964 | deletion | GM10978 | Sequencing | Sequence alignment | 0 | nssv1671948 |
nssv1671965 | deletion | GM10969 | Sequencing | Sequence alignment | 0 | nssv1672039 |
nssv1671966 | deletion | GM10473 | Sequencing | Sequence alignment | 1 | nssv1671985, nssv1672007 |
nssv1671967 | deletion | GM17033 | Sequencing | Sequence alignment | 1 | nssv1671919, nssv1671937, nssv1672012 |
nssv1671968 | deletion | GM17036 | Sequencing | Sequence alignment | 1 | 6 |
nssv1671969 | deletion | GM17040 | Sequencing | Sequence alignment | 1 | 6 |
nssv1671970 | deletion | GM09948 | Sequencing | Sequence alignment | 1 | nssv1671926, nssv1671987, nssv1672019 |
nssv1671971 | deletion | GM01805 | Sequencing | Sequence alignment | 1 | nssv1671915, nssv1672002, nssv1672056 |
nssv1671972 | deletion | GM11522 | Sequencing | Sequence alignment | 1 | nssv1672020 |
nssv1671973 | deletion | GM11523 | Sequencing | Sequence alignment | 1 | nssv1672022, nssv1672050 |
nssv1671974 | deletion | GM10534 | Sequencing | Sequence alignment | 1 | nssv1672018 |
nssv1671975 | deletion | GM01814 | Sequencing | Sequence alignment | 1 | nssv1671908, nssv1672015 |
nssv1671976 | deletion | GM11524 | Sequencing | Sequence alignment | 1 | nssv1671914, nssv1672024 |
nssv1671977 | deletion | GM11373 | Sequencing | Sequence alignment | 1 | 6 |
nssv1671978 | deletion | GM10975 | Sequencing | Sequence alignment | 1 | nssv1671909, nssv1672057 |
nssv1671979 | deletion | GM10542 | Sequencing | Sequence alignment | 1 | nssv1671916, nssv1672031, nssv1672055 |
nssv1671980 | deletion | GM10968 | Sequencing | Sequence alignment | 1 | nssv1671949, nssv1672038 |
nssv1671981 | deletion | GM10965 | Sequencing | Sequence alignment | 1 | 5 |
nssv1671982 | deletion | GM10539 | Sequencing | Sequence alignment | 1 | nssv1672030 |
nssv1671983 | deletion | GM10979 | Sequencing | Sequence alignment | 1 | nssv1671934, nssv1672000, nssv1672042 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1671957 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671960 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671961 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671962 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671963 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671964 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671965 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671966 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671967 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671968 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671969 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671970 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671971 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671972 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671973 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671974 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671975 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671976 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671977 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671978 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671979 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671980 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671981 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671982 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671983 | Remapped | Perfect | NC_000011.10:g.555 97042_55690279del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,597,042 | 55,690,279 |
nssv1671957 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671960 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671961 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671962 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671963 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671964 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671965 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671966 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671967 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671968 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671969 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671970 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671971 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671972 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671973 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671974 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671975 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671976 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671977 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671978 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671979 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671980 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671981 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671982 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671983 | Remapped | Perfect | NC_000011.9:g.5536 4518_55457755del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 55,364,518 | 55,457,755 |
nssv1671957 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671960 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671961 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671962 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671963 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671964 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671965 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671966 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671967 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671968 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671969 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671970 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671971 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671972 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671973 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671974 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671975 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671976 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671977 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671978 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671979 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671980 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671981 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671982 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 | ||
nssv1671983 | Submitted genomic | NC_000011.8:g.5512 1094_55214331del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 55,121,094 | 55,214,331 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv1671971 | 4 | GM01805 | MLPA | Probe signal intensity | Pass |
nssv1671957 | 4 | GM01806 | MLPA | Probe signal intensity | Pass |
nssv1671975 | 4 | GM01814 | MLPA | Probe signal intensity | Pass |
nssv1671970 | 4 | GM09948 | MLPA | Probe signal intensity | Pass |
nssv1671966 | 4 | GM10473 | MLPA | Probe signal intensity | Pass |
nssv1671974 | 4 | GM10534 | MLPA | Probe signal intensity | Pass |
nssv1671982 | 4 | GM10539 | MLPA | Probe signal intensity | Pass |
nssv1671960 | 4 | GM10540 | MLPA | Probe signal intensity | Pass |
nssv1671961 | 4 | GM10541 | MLPA | Probe signal intensity | Pass |
nssv1671979 | 4 | GM10542 | MLPA | Probe signal intensity | Pass |
nssv1671962 | 4 | GM10543 | MLPA | Probe signal intensity | Pass |
nssv1671981 | 4 | GM10965 | MLPA | Probe signal intensity | Pass |
nssv1671980 | 4 | GM10968 | MLPA | Probe signal intensity | Pass |
nssv1671965 | 4 | GM10969 | MLPA | Probe signal intensity | Pass |
nssv1671978 | 4 | GM10975 | MLPA | Probe signal intensity | Pass |
nssv1671963 | 4 | GM10976 | MLPA | Probe signal intensity | Pass |
nssv1671964 | 4 | GM10978 | MLPA | Probe signal intensity | Pass |
nssv1671983 | 4 | GM10979 | MLPA | Probe signal intensity | Pass |
nssv1671977 | 4 | GM11373 | MLPA | Probe signal intensity | Pass |
nssv1671972 | 4 | GM11522 | MLPA | Probe signal intensity | Pass |
nssv1671973 | 4 | GM11523 | MLPA | Probe signal intensity | Pass |
nssv1671976 | 4 | GM11524 | MLPA | Probe signal intensity | Pass |
nssv1671967 | 4 | GM17033 | MLPA | Probe signal intensity | Pass |
nssv1671968 | 4 | GM17036 | MLPA | Probe signal intensity | Pass |
nssv1671969 | 4 | GM17040 | MLPA | Probe signal intensity | Pass |
nssv1671971 | 5 | GM01805 | PCR | Manual observation | Pass |
nssv1671957 | 5 | GM01806 | PCR | Manual observation | Pass |
nssv1671975 | 5 | GM01814 | PCR | Manual observation | Pass |
nssv1671970 | 5 | GM09948 | PCR | Manual observation | Pass |
nssv1671966 | 5 | GM10473 | PCR | Manual observation | Pass |
nssv1671974 | 5 | GM10534 | PCR | Manual observation | Pass |
nssv1671982 | 5 | GM10539 | PCR | Manual observation | Pass |
nssv1671960 | 5 | GM10540 | PCR | Manual observation | Pass |
nssv1671961 | 5 | GM10541 | PCR | Manual observation | Pass |
nssv1671979 | 5 | GM10542 | PCR | Manual observation | Pass |
nssv1671962 | 5 | GM10543 | PCR | Manual observation | Pass |
nssv1671981 | 5 | GM10965 | PCR | Manual observation | Pass |
nssv1671980 | 5 | GM10968 | PCR | Manual observation | Pass |
nssv1671965 | 5 | GM10969 | PCR | Manual observation | Pass |
nssv1671978 | 5 | GM10975 | PCR | Manual observation | Pass |
nssv1671963 | 5 | GM10976 | PCR | Manual observation | Pass |
nssv1671964 | 5 | GM10978 | PCR | Manual observation | Pass |
nssv1671983 | 5 | GM10979 | PCR | Manual observation | Pass |
nssv1671977 | 5 | GM11373 | PCR | Manual observation | Pass |
nssv1671972 | 5 | GM11522 | PCR | Manual observation | Pass |
nssv1671973 | 5 | GM11523 | PCR | Manual observation | Pass |
nssv1671976 | 5 | GM11524 | PCR | Manual observation | Pass |
nssv1671967 | 5 | GM17033 | PCR | Manual observation | Pass |
nssv1671968 | 5 | GM17036 | PCR | Manual observation | Pass |
nssv1671969 | 5 | GM17040 | PCR | Manual observation | Pass |