nsv3972353
- 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:8,813,485
- Description:GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)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: 19306 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 17888 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3972353 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 36,860,944 | 45,674,428 |
| nsv3972353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 37,149,872 | 46,169,876 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15223155 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000762700.3, VCV000624469.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15223155 | Remapped | Good | NC_000010.11:g.(?_ 36860944)_(4567442 8_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 36,860,944 | 45,674,428 |
| nssv15223155 | Submitted genomic | NC_000010.10:g.(?_ 37149872)_(4616987 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 37,149,872 | 46,169,876 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15223155 | GRCh37: NC_000010.10:g.(?_37149872)_(46169876_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV000762700.3, VCV000624469.3 | 3 |