nsv4372878
- 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:65,533
- 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: 252 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 252 SVs from 43 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4372878 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 61,451,404 | 61,516,936 |
nsv4372878 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 61,845,185 | 61,910,717 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15621453 | copy number loss | 1-1017-003 | SNP array | Genotyping | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15621453 | Remapped | Perfect | NC_000012.12:g.(?_ 61451404)_(6151693 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 61,451,404 | 61,516,936 |
nssv15621453 | Submitted genomic | NC_000012.11:g.(?_ 61845185)_(6191071 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 61,845,185 | 61,910,717 |