nsv3913513
- 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:38,903,553
- Description:GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)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: 113468 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 102897 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 28845 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 |
|---|---|---|---|---|---|---|---|
| nsv3913513 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 7,749,532 | 46,653,084 |
| nsv3913513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,485,038 | 48,072,996 |
| nsv3913513 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 14,406,909 | 46,897,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147268 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134727.5, VCV000145332.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147268 | Submitted genomic | NC_000021.9:g.(?_7 749532)_(46653084_ ?)dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 7,749,532 | 46,653,084 |
| nssv15147268 | Submitted genomic | NC_000021.8:g.(?_1 5485038)_(48072996 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,485,038 | 48,072,996 |
| nssv15147268 | Submitted genomic | NC_000021.7:g.(?_1 4406909)_(46897424 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 14,406,909 | 46,897,424 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147268 | GRCh37: NC_000021.8:g.(?_15485038)_(48072996_?)dup, GRCh38: NC_000021.9:g.(?_7749532)_(46653084_?)dup, NCBI36: NC_000021.7:g.(?_14406909)_(46897424_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134727.5, VCV000145332.2 | 3 |