nsv6315395
- 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:14,329,522
- Description:GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) AND Chromosome 9p deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 45627 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 45633 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315395 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 4,992,582 | 19,322,103 |
| nsv6315395 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 4,992,582 | 19,322,101 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976846 | copy number loss | Multiple | Multiple | CHROMOSOME 9p DELETION SYNDROME; Chromosome 9p deletion syndrome | Pathogenic | ClinVar | RCV002280769.1, VCV001703681.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976846 | Remapped | Perfect | NC_000009.12:g.(?_ 4992582)_(19322103 _?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 4,992,582 | 19,322,103 |
| nssv17976846 | Submitted genomic | NC_000009.11:g.(?_ 4992582)_(19322101 _?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 4,992,582 | 19,322,101 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976846 | GRCh37: NC_000009.11:g.(?_4992582)_(19322101_?)del | copy number loss | unknown | CHROMOSOME 9p DELETION SYNDROME; Chromosome 9p deletion syndrome | Pathogenic | ClinVar | RCV002280769.1, VCV001703681.1 |