nsv3876912
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:70,991,811
- Description:Single allele AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 188389 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 188567 SVs from 151 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3876912 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 30,822,844 | 101,814,654 |
nsv3876912 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 31,115,047 | 102,354,857 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15151655 | duplication | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000677926.2, VCV000560049.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15151655 | Remapped | Good | NC_000015.10:g.308 22844_101814654dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,822,844 | 101,814,654 |
nssv15151655 | Submitted genomic | NC_000015.9:g.3111 5047_102354857dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 31,115,047 | 102,354,857 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15151655 | GRCh37: NC_000015.9:g.31115047_102354857dup | duplication | de novo | not provided | Pathogenic | ClinVar | RCV000677926.2, VCV000560049.2 | 3 |