nsv6290319
- 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:18,091,169
- Description:GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)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: 46873 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 46889 SVs from 133 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290319 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 45,244,911 | 63,336,079 |
| nsv6290319 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 45,819,046 | 63,910,212 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955947 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001795546.4, VCV001328110.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955947 | Remapped | Perfect | NC_000013.11:g.452 44911_63336079del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 45,244,911 | 63,336,079 |
| nssv17955947 | Submitted genomic | NC_000013.10:g.458 19046_63910212del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 45,819,046 | 63,910,212 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17955947 | GRCh37: NC_000013.10:g.45819046_63910212del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV001795546.4, VCV001328110.4 | 1 |