nsv6313952
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:28,211,623
- Description:GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 78319 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 78239 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313952 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 6,231,971 | 34,443,593 |
| nsv6313952 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 6,273,934 | 34,732,521 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969399 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052863.3, VCV001527577.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969399 | Remapped | Good | NC_000010.11:g.(?_ 6231971)_(34443593 _?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 6,231,971 | 34,443,593 |
| nssv17969399 | Submitted genomic | NC_000010.10:g.(?_ 6273934)_(34732521 _?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 6,273,934 | 34,732,521 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969399 | GRCh37: NC_000010.10:g.(?_6273934)_(34732521_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002052863.3, VCV001527577.3 |