nsv4455807
- 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:309,926
- Description:GRCh37/hg19 13q31.3(chr13:94120662-94430587)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: 1021 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1021 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455807 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 93,468,409 | 93,778,334 |
| nsv4455807 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 94,120,662 | 94,430,587 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772559 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847887.2, VCV000687181.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772559 | Remapped | Perfect | NC_000013.11:g.(?_ 93468409)_(9377833 4_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 93,468,409 | 93,778,334 |
| nssv15772559 | Submitted genomic | NC_000013.10:g.(?_ 94120662)_(9443058 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 94,120,662 | 94,430,587 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772559 | GRCh37: NC_000013.10:g.(?_94120662)_(94430587_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000847887.2, VCV000687181.2 | 1 |