nsv4455557
- 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:10,415,627
- Description:GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1 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: 25542 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 25536 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455557 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 107,769,869 | 118,185,495 |
| nsv4455557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 107,410,314 | 117,825,549 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777267 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846765.2, VCV000686057.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777267 | Remapped | Good | NC_000007.14:g.(?_ 107769869)_(118185 495_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 107,769,869 | 118,185,495 |
| nssv15777267 | Submitted genomic | NC_000007.13:g.(?_ 107410314)_(117825 549_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 107,410,314 | 117,825,549 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777267 | GRCh37: NC_000007.13:g.(?_107410314)_(117825549_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846765.2, VCV000686057.2 | 1 |