nsv3924246
- 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:8,953,873
- Description:GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)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: 21596 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 21596 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 6157 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924246 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 30,313,809 | 39,267,681 |
| nsv3924246 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 30,887,946 | 39,841,818 |
| nsv3924246 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 29,785,946 | 38,739,818 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136975 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139225.5, VCV000150360.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136975 | Submitted genomic | NC_000013.11:g.(?_ 30313809)_(3926768 1_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 30,313,809 | 39,267,681 |
| nssv15136975 | Submitted genomic | NC_000013.10:g.(?_ 30887946)_(3984181 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 30,887,946 | 39,841,818 |
| nssv15136975 | Submitted genomic | NC_000013.9:g.(?_2 9785946)_(38739818 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 29,785,946 | 38,739,818 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136975 | GRCh37: NC_000013.10:g.(?_30887946)_(39841818_?)del, GRCh38: NC_000013.11:g.(?_30313809)_(39267681_?)del, NCBI36: NC_000013.9:g.(?_29785946)_(38739818_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139225.5, VCV000150360.2 | 1 |