nsv3920559
- 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:7,482,695
- Description:GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)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: 17812 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 17812 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 4961 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920559 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 29,073,320 | 36,556,014 |
| nsv3920559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 29,647,457 | 37,130,151 |
| nsv3920559 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 28,545,457 | 36,028,151 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134621 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137923.4, VCV000148858.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134621 | Submitted genomic | NC_000013.11:g.(?_ 29073320)_(3655601 4_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 29,073,320 | 36,556,014 |
| nssv15134621 | Submitted genomic | NC_000013.10:g.(?_ 29647457)_(3713015 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 29,647,457 | 37,130,151 |
| nssv15134621 | Submitted genomic | NC_000013.9:g.(?_2 8545457)_(36028151 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 28,545,457 | 36,028,151 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134621 | GRCh37: NC_000013.10:g.(?_29647457)_(37130151_?)del, GRCh38: NC_000013.11:g.(?_29073320)_(36556014_?)del, NCBI36: NC_000013.9:g.(?_28545457)_(36028151_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137923.4, VCV000148858.2 | 1 |