nsv1159181
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Alsmadi et al. 2014
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: 234 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1159181 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 1,122,102 | 1,122,102 | not reported |
| nsv1159181 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 1,122,581 | 1,122,581 | not reported |
| nsv1159181 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171809.1 | Chr12|NW_0 13171809.1 | 95,501 | 95,501 | not reported |
| nsv1159181 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171809.1 | Chr12|NW_0 13171809.1 | 95,980 | 95,980 | not reported |
| nsv1159181 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 1,231,268 | 1,231,268 | not reported | ||
| nsv1159181 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 1,231,747 | 1,231,747 | not reported |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4025988 | intrachromosomal translocation | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv4025988 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_013171809.1 | Chr12|NW_0 13171809.1 | 95,501 | 95,501 | not reported |
| nssv4025988 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_013171809.1 | Chr12|NW_0 13171809.1 | 95,980 | 95,980 | not reported |
| nssv4025988 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 1,122,102 | 1,122,102 | not reported |
| nssv4025988 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 1,122,581 | 1,122,581 | not reported |
| nssv4025988 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 1,231,268 | 1,231,268 | not reported | ||
| nssv4025988 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 1,231,747 | 1,231,747 | not reported |