nsv6112673
- 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:2,513,621
- Description:GRCh37/hg19 2p11.2(chr2:88007281-90260248)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: 8979 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 8632 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112673 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 87,707,762 | 90,221,382 |
| nsv6112673 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 88,007,281 | 90,260,248 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17649967 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001532445.9, VCV001176758.10 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649967 | Remapped | Pass | NC_000002.12:g.(?_ 87707762)_(9022138 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,707,762 | 90,221,382 |
| nssv17649967 | Submitted genomic | NC_000002.11:g.(?_ 88007281)_(9026024 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 88,007,281 | 90,260,248 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17649967 | GRCh37: NC_000002.11:g.(?_88007281)_(90260248_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001532445.9, VCV001176758.10 | 1 |