nsv6291487
- 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:65,623,518
- Description:GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 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: 173048 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 173118 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291487 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 41,930,404 | 107,553,921 |
| nsv6291487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 42,504,540 | 108,206,269 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956080 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001829235.1, VCV001341277.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956080 | Remapped | Good | NC_000013.11:g.(?_ 41930404)_(1075539 21_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 41,930,404 | 107,553,921 |
| nssv17956080 | Submitted genomic | NC_000013.10:g.(?_ 42504540)_(1082062 69_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 42,504,540 | 108,206,269 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956080 | GRCh37: NC_000013.10:g.(?_42504540)_(108206269_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001829235.1, VCV001341277.1 | 3 |