nsv6313735
- 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:1,394,569
- Description:GRCh37/hg19 2q11.1(chr2:95341387-96735978) 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: 3095 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3091 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313735 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 94,675,662 | 96,070,230 |
| nsv6313735 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 95,341,387 | 96,735,978 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969734 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053206.3, VCV001526874.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969734 | Remapped | Good | NC_000002.12:g.(?_ 94675662)_(9607023 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 94,675,662 | 96,070,230 |
| nssv17969734 | Submitted genomic | NC_000002.11:g.(?_ 95341387)_(9673597 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 95,341,387 | 96,735,978 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969734 | GRCh37: NC_000002.11:g.(?_95341387)_(96735978_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002053206.3, VCV001526874.3 |