nsv4675250
- 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:6,221,062
- Description:GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)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: 14376 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 14376 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675250 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 133,496,203 | 139,717,264 |
| nsv4675250 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 133,817,341 | 140,038,401 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208825 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005848.1, VCV000814871.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208825 | Remapped | Perfect | NC_000006.12:g.(?_ 133496203)_(139717 264_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 133,496,203 | 139,717,264 |
| nssv16208825 | Submitted genomic | NC_000006.11:g.(?_ 133817341)_(140038 401_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 133,817,341 | 140,038,401 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208825 | GRCh37: NC_000006.11:g.(?_133817341)_(140038401_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005848.1, VCV000814871.1 | 1 |