nsv6313578
- 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:878,518
- Description:GRCh37/hg19 7q11.22(chr7:69145364-70023881) 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: 2018 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 2018 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313578 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 69,680,378 | 70,558,895 |
| nsv6313578 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,145,364 | 70,023,881 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970220 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053692.3, VCV001527360.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970220 | Remapped | Perfect | NC_000007.14:g.(?_ 69680378)_(7055889 5_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 69,680,378 | 70,558,895 |
| nssv17970220 | Submitted genomic | NC_000007.13:g.(?_ 69145364)_(7002388 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,145,364 | 70,023,881 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970220 | GRCh37: NC_000007.13:g.(?_69145364)_(70023881_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053692.3, VCV001527360.3 |