nsv6635900
- Organism: Homo sapiens
- Study:nstd227 (Kikas et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:282,746
- Publication(s):Kikas et al. 2023
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: 1506 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1506 SVs from 89 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6635900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 13,473,131 | 13,755,876 |
nsv6635900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 13,330,640 | 13,613,385 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18328802 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18328802 | Remapped | Perfect | NC_000008.11:g.(13 473131_?)_(?_13755 876)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 13,473,131 | 13,755,876 |
nssv18328802 | Submitted genomic | NC_000008.10:g.(13 330640_?)_(?_13613 385)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 13,330,640 | 13,613,385 |