nsv6290852
- 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:61,697
- Description:GRCh37/hg19 6p25.3(chr6:1705438-1767134)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: 272 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 1,705,204 | 1,766,900 |
| nsv6290852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,705,438 | 1,767,134 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957066 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001834166.1, VCV001340497.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957066 | Remapped | Perfect | NC_000006.12:g.(?_ 1705204)_(1766900_ ?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 1,705,204 | 1,766,900 |
| nssv17957066 | Submitted genomic | NC_000006.11:g.(?_ 1705438)_(1767134_ ?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,705,438 | 1,767,134 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957066 | GRCh37: NC_000006.11:g.(?_1705438)_(1767134_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001834166.1, VCV001340497.1 | 1 |