nsv6313646
- 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:256,298
- Description:GRCh37/hg19 2p16.3(chr2:50980691-51236988) 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: 1240 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1240 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313646 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,753,553 | 51,009,850 |
| nsv6313646 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 50,980,691 | 51,236,988 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969173 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052637.3, VCV001526618.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969173 | Remapped | Perfect | NC_000002.12:g.(?_ 50753553)_(5100985 0_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,753,553 | 51,009,850 |
| nssv17969173 | Submitted genomic | NC_000002.11:g.(?_ 50980691)_(5123698 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,980,691 | 51,236,988 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969173 | GRCh37: NC_000002.11:g.(?_50980691)_(51236988_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052637.3, VCV001526618.3 |