nsv3896419
- 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:4,309,433
- Description:GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)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: 12489 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 11789 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3896419 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 45,792,373 | 50,101,805 |
| nsv3896419 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,287,821 | 51,861,565 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152293 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000683280.2, VCV000563791.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152293 | Remapped | Pass | NC_000010.11:g.(?_ 45792373)_(5010180 5_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,373 | 50,101,805 |
| nssv15152293 | Submitted genomic | NC_000010.10:g.(?_ 46287821)_(5186156 5_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,821 | 51,861,565 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152293 | GRCh37: NC_000010.10:g.(?_46287821)_(51861565_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000683280.2, VCV000563791.2 | 1 |