nsv3924859
- 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:36,417,838
- Description:GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)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: 96161 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 96244 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 26577 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924859 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 50,729,367 | 87,147,204 |
| nsv3924859 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 52,489,127 | 88,906,961 |
| nsv3924859 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 52,159,133 | 88,896,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148838 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138007.5, VCV000148945.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148838 | Submitted genomic | NC_000010.11:g.(?_ 50729367)_(8714720 4_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 50,729,367 | 87,147,204 |
| nssv15148838 | Submitted genomic | NC_000010.10:g.(?_ 52489127)_(8890696 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 52,489,127 | 88,906,961 |
| nssv15148838 | Submitted genomic | NC_000010.9:g.(?_5 2159133)_(88896941 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 52,159,133 | 88,896,941 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148838 | GRCh37: NC_000010.10:g.(?_52489127)_(88906961_?)dup, GRCh38: NC_000010.11:g.(?_50729367)_(87147204_?)dup, NCBI36: NC_000010.9:g.(?_52159133)_(88896941_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138007.5, VCV000148945.2 | 3 |