nsv4729606
- 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:200,016
- Description:GRCh37/hg19 9q22.31(chr9:95175351-95375366)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: 546 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 546 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729606 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 92,413,069 | 92,613,084 |
| nsv4729606 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 95,175,351 | 95,375,366 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255152 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259036.1, VCV000979860.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255152 | Remapped | Perfect | NC_000009.12:g.(?_ 92413069)_(9261308 4_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 92,413,069 | 92,613,084 |
| nssv16255152 | Submitted genomic | NC_000009.11:g.(?_ 95175351)_(9537536 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 95,175,351 | 95,375,366 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255152 | GRCh37: NC_000009.11:g.(?_95175351)_(95375366_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001259036.1, VCV000979860.1 | 1 |