nsv3916701
- 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:3,264,690
- Description:GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)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: 7627 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 7627 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 2195 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916701 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 31,164,047 | 34,428,736 |
| nsv3916701 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 31,738,184 | 35,002,873 |
| nsv3916701 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 30,636,184 | 33,900,873 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120285 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051374.4, VCV000057639.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120285 | Submitted genomic | NC_000013.11:g.(?_ 31164047)_(3442873 6_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 31,164,047 | 34,428,736 |
| nssv15120285 | Submitted genomic | NC_000013.10:g.(?_ 31738184)_(3500287 3_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 31,738,184 | 35,002,873 |
| nssv15120285 | Submitted genomic | NC_000013.9:g.(?_3 0636184)_(33900873 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 30,636,184 | 33,900,873 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120285 | GRCh37: NC_000013.10:g.(?_31738184)_(35002873_?)del, GRCh38: NC_000013.11:g.(?_31164047)_(34428736_?)del, NCBI36: NC_000013.9:g.(?_30636184)_(33900873_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051374.4, VCV000057639.1 | 1 |