nsv3921919
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:33,022,097
- Description:GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 91079 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 90618 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 23587 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921919 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 100,600,492 | 133,622,588 |
| nsv3921919 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 102,360,249 | 135,436,092 |
| nsv3921919 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 102,350,239 | 135,286,082 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161077 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137747.6, VCV000148679.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161077 | Submitted genomic | NC_000010.11:g.(?_ 100600492)_(133622 588_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 100,600,492 | 133,622,588 |
| nssv15161077 | Submitted genomic | NC_000010.10:g.(?_ 102360249)_(135436 092_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 102,360,249 | 135,436,092 |
| nssv15161077 | Submitted genomic | NC_000010.9:g.(?_1 02350239)_(1352860 82_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 102,350,239 | 135,286,082 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161077 | GRCh37: NC_000010.10:g.(?_102360249)_(135436092_?)dup, GRCh38: NC_000010.11:g.(?_100600492)_(133622588_?)dup, NCBI36: NC_000010.9:g.(?_102350239)_(135286082_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137747.6, VCV000148679.2 | 3 |