nsv4675234
- 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:4,688,744
- Description:GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)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: 12719 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 12719 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675234 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 149,110,186 | 153,798,929 |
| nsv4675234 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 149,431,322 | 154,120,064 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208093 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005856.1, VCV000814879.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208093 | Remapped | Perfect | NC_000006.12:g.(?_ 149110186)_(153798 929_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 149,110,186 | 153,798,929 |
| nssv16208093 | Submitted genomic | NC_000006.11:g.(?_ 149431322)_(154120 064_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 149,431,322 | 154,120,064 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208093 | GRCh37: NC_000006.11:g.(?_149431322)_(154120064_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005856.1, VCV000814879.1 | 1 |