nsv4674876
- 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:4,417,559
- Description:GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3 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: 11696 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 11628 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674876 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 87,387,995 | 91,805,553 |
| nsv4674876 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 90,002,910 | 94,567,835 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207017 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001006243.1, VCV000815266.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207017 | Remapped | Good | NC_000009.12:g.(?_ 87387995)_(9180555 3_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 87,387,995 | 91,805,553 |
| nssv16207017 | Submitted genomic | NC_000009.11:g.(?_ 90002910)_(9456783 5_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 90,002,910 | 94,567,835 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207017 | GRCh37: NC_000009.11:g.(?_90002910)_(94567835_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001006243.1, VCV000815266.1 | 3 |