nsv6313683
- 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:6,624,391
- Description:GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892) 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: 18832 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 18805 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313683 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 227,942,858 | 234,567,248 |
| nsv6313683 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 228,807,574 | 235,475,892 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969819 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053291.3, VCV001526959.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969819 | Remapped | Good | NC_000002.12:g.(?_ 227942858)_(234567 248_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,942,858 | 234,567,248 |
| nssv17969819 | Submitted genomic | NC_000002.11:g.(?_ 228807574)_(235475 892_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,807,574 | 235,475,892 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969819 | GRCh37: NC_000002.11:g.(?_228807574)_(235475892_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053291.3, VCV001526959.3 |