nsv4371934
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,119
- Publication(s):Zarrei et al. 2019
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: 1223 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 1224 SVs from 49 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4371934 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 1,341,567 | 1,387,685 |
nsv4371934 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 1,460,460 | 1,506,578 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15679408 | copy number loss | 222679 | SNP array | Genotyping | 12 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15679408 | Remapped | Perfect | NC_000023.11:g.(?_ 1341567)_(1387685_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,341,567 | 1,387,685 |
nssv15679408 | Submitted genomic | NC_000023.10:g.(?_ 1460460)_(1506578_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,460,460 | 1,506,578 |