nsv6637683
- 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:24,274,350
- Description:GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 66820 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 66964 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637683 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 77,220,475 | 101,494,824 |
| nsv6637683 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 77,512,817 | 102,035,027 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329320 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002475797.1, VCV001809424.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329320 | Remapped | Good | NC_000015.10:g.(?_ 77220475)_(1014948 24_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 77,220,475 | 101,494,824 |
| nssv18329320 | Submitted genomic | NC_000015.9:g.(?_7 7512817)_(10203502 7_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 77,512,817 | 102,035,027 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329320 | GRCh37: NC_000015.9:g.(?_77512817)_(102035027_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002475797.1, VCV001809424.1 | 3 |