nsv6629204
- Organism: Homo sapiens
- Study:nstd224 (Zarrei 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:274,018
- Publication(s):Zarrei 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: 881 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 881 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6629204 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 165,151,541 | 165,425,558 |
nsv6629204 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 166,072,693 | 166,346,710 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18303183 | duplication | OSC5840 | SNP array | Probe signal intensity | 12 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18303183 | Remapped | Perfect | NC_000004.12:g.(?_ 165151541)_(165425 558_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 165,151,541 | 165,425,558 |
nssv18303183 | Submitted genomic | NC_000004.11:g.(?_ 166072693)_(166346 710_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 166,072,693 | 166,346,710 |