nsv4349215
- 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:17,533,084
- Description:GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) 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: 42574 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 42506 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349215 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 76,905,909 | 94,438,992 |
| nsv4349215 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 79,520,825 | 97,201,274 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605845 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767645.1, VCV000625637.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605845 | Remapped | Good | NC_000009.12:g.(?_ 76905909)_(9443899 2_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 76,905,909 | 94,438,992 |
| nssv15605845 | Submitted genomic | NC_000009.11:g.(?_ 79520825)_(9720127 4_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 79,520,825 | 97,201,274 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605845 | GRCh37: NC_000009.11:g.(?_79520825)_(97201274_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767645.1, VCV000625637.1 |