nsv3913354
- 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:8,224,227
- Description:GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)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: 15041 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 12742 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 3061 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913354 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 22,061,586 | 30,285,812 |
| nsv3913354 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 22,042,224 | 29,520,488 |
| nsv3913354 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 21,990,224 | 28,134,149 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161281 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053000.5, VCV000059196.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161281 | Submitted genomic | NC_000020.11:g.(?_ 22061586)_(3028581 2_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 22,061,586 | 30,285,812 |
| nssv15161281 | Submitted genomic | NC_000020.10:g.(?_ 22042224)_(2952048 8_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 22,042,224 | 29,520,488 |
| nssv15161281 | Submitted genomic | NC_000020.9:g.(?_2 1990224)_(28134149 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 21,990,224 | 28,134,149 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161281 | GRCh37: NC_000020.10:g.(?_22042224)_(29520488_?)dup, GRCh38: NC_000020.11:g.(?_22061586)_(30285812_?)dup, NCBI36: NC_000020.9:g.(?_21990224)_(28134149_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053000.5, VCV000059196.2 | 3 |