nsv4675995
- 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:40,040,391
- Description:GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)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: 107725 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 107788 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675995 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 50,938,467 | 90,978,857 |
| nsv4675995 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 51,512,603 | 91,631,111 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208363 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006564.1, VCV000815587.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208363 | Remapped | Good | NC_000013.11:g.(?_ 50938467)_(9097885 7_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 50,938,467 | 90,978,857 |
| nssv16208363 | Submitted genomic | NC_000013.10:g.(?_ 51512603)_(9163111 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 51,512,603 | 91,631,111 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208363 | GRCh37: NC_000013.10:g.(?_51512603)_(91631111_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006564.1, VCV000815587.1 | 1 |