nsv3913042
- 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:14,971,558
- Description:GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)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: 37122 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 37125 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 9426 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913042 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 165,158,611 | 180,130,168 |
| nsv3913042 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 164,876,399 | 179,847,956 |
| nsv3913042 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 166,359,093 | 181,330,650 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137004 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139359.5, VCV000150519.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137004 | Submitted genomic | NC_000003.12:g.(?_ 165158611)_(180130 168_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 165,158,611 | 180,130,168 |
| nssv15137004 | Submitted genomic | NC_000003.11:g.(?_ 164876399)_(179847 956_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 164,876,399 | 179,847,956 |
| nssv15137004 | Submitted genomic | NC_000003.10:g.(?_ 166359093)_(181330 650_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 166,359,093 | 181,330,650 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137004 | GRCh37: NC_000003.11:g.(?_164876399)_(179847956_?)dup, GRCh38: NC_000003.12:g.(?_165158611)_(180130168_?)dup, NCBI36: NC_000003.10:g.(?_166359093)_(181330650_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139359.5, VCV000150519.2 | 3 |