nsv4675850
- 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:61,654,381
- Description:GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)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: 174447 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 174360 SVs from 144 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675850 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 52,687,878 | 114,342,258 |
| nsv4675850 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 53,262,013 | 115,107,733 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208365 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006567.1, VCV000815590.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208365 | Remapped | Good | NC_000013.11:g.(?_ 52687878)_(1143422 58_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,687,878 | 114,342,258 |
| nssv16208365 | Submitted genomic | NC_000013.10:g.(?_ 53262013)_(1151077 33_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 53,262,013 | 115,107,733 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208365 | GRCh37: NC_000013.10:g.(?_53262013)_(115107733_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006567.1, VCV000815590.1 | 1 |