nsv4675991
- 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:15,376,813
- Description:GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)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: 50349 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 49879 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675991 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 118,236,827 | 133,613,639 |
| nsv4675991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 119,996,339 | 135,427,143 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208902 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006356.1, VCV000815379.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208902 | Remapped | Good | NC_000010.11:g.(?_ 118236827)_(133613 639_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 118,236,827 | 133,613,639 |
| nssv16208902 | Submitted genomic | NC_000010.10:g.(?_ 119996339)_(135427 143_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 119,996,339 | 135,427,143 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208902 | GRCh37: NC_000010.10:g.(?_119996339)_(135427143_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006356.1, VCV000815379.1 | 3 |