nsv3917642
- 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:6,934,046
- Description:GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)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: 15331 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 15331 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 3701 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917642 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 33,728,406 | 40,662,451 |
| nsv3917642 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 33,769,898 | 40,703,942 |
| nsv3917642 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 33,744,902 | 40,678,946 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146653 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134924.5, VCV000145586.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146653 | Submitted genomic | NC_000003.12:g.(?_ 33728406)_(4066245 1_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 33,728,406 | 40,662,451 |
| nssv15146653 | Submitted genomic | NC_000003.11:g.(?_ 33769898)_(4070394 2_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 33,769,898 | 40,703,942 |
| nssv15146653 | Submitted genomic | NC_000003.10:g.(?_ 33744902)_(4067894 6_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 33,744,902 | 40,678,946 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146653 | GRCh37: NC_000003.11:g.(?_33769898)_(40703942_?)dup, GRCh38: NC_000003.12:g.(?_33728406)_(40662451_?)dup, NCBI36: NC_000003.10:g.(?_33744902)_(40678946_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134924.5, VCV000145586.2 | 3 |