nsv3915679
- 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:38,774,246
- Description:GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 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: 99925 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 99941 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 27216 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915679 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 30,697,728 | 69,471,973 |
| nsv3915679 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 31,271,865 | 70,046,105 |
| nsv3915679 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 30,169,865 | 68,944,106 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146244 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051373.5, VCV000057638.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146244 | Submitted genomic | NC_000013.11:g.(?_ 30697728)_(6947197 3_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 30,697,728 | 69,471,973 |
| nssv15146244 | Submitted genomic | NC_000013.10:g.(?_ 31271865)_(7004610 5_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 31,271,865 | 70,046,105 |
| nssv15146244 | Submitted genomic | NC_000013.9:g.(?_3 0169865)_(68944106 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 30,169,865 | 68,944,106 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146244 | GRCh37: NC_000013.10:g.(?_31271865)_(70046105_?)del, GRCh38: NC_000013.11:g.(?_30697728)_(69471973_?)del, NCBI36: NC_000013.9:g.(?_30169865)_(68944106_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051373.5, VCV000057638.1 | 1 |