nsv6313900
- 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:51,106,055
- Description:GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) 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: 126876 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 126811 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313900 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 68,735,078 | 119,841,132 |
| nsv6313900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 71,349,994 | 122,603,410 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970381 | copy number gain | Multiple | Multiple | not specified | Likely pathogenic | ClinVar | RCV002053853.3, VCV001527521.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970381 | Remapped | Good | NC_000009.12:g.(?_ 68735078)_(1198411 32_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 68,735,078 | 119,841,132 |
| nssv17970381 | Submitted genomic | NC_000009.11:g.(?_ 71349994)_(1226034 10_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 71,349,994 | 122,603,410 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970381 | GRCh37: NC_000009.11:g.(?_71349994)_(122603410_?)dup | copy number gain | germline | not specified | Likely pathogenic | ClinVar | RCV002053853.3, VCV001527521.3 |