nsv3317422
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:116,770
- Publication(s):Frenkel 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: 837 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 837 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317422 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,662,424 | 4,779,193 |
| nsv3317422 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 4,519,946 | 4,636,715 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14470039 | Remapped | Perfect | NC_000008.11:g.(?_ 4662424)_(4779193_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,662,424 | 4,779,193 |
| nssv14470437 | Remapped | Perfect | NC_000008.11:g.(?_ 4662424)_(4779193_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,662,424 | 4,779,193 |
| nssv14470039 | Submitted genomic | NC_000008.10:g.(?_ 4519946)_(4636715_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,519,946 | 4,636,715 | ||
| nssv14470437 | Submitted genomic | NC_000008.10:g.(?_ 4519946)_(4636715_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,519,946 | 4,636,715 |