nsv6313509
- 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:9,450,221
- Description:GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) 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: 21875 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 21880 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313509 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 40,738,840 | 50,189,060 |
| nsv6313509 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 40,778,439 | 50,228,656 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970216 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053688.3, VCV001527356.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970216 | Remapped | Perfect | NC_000007.14:g.(?_ 40738840)_(5018906 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 40,738,840 | 50,189,060 |
| nssv17970216 | Submitted genomic | NC_000007.13:g.(?_ 40778439)_(5022865 6_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 40,778,439 | 50,228,656 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970216 | GRCh37: NC_000007.13:g.(?_40778439)_(50228656_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053688.3, VCV001527356.3 |