nsv3923692
- 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:15,398,627
- Description:GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)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: 41396 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 41442 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 11083 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 |
|---|---|---|---|---|---|---|---|
| nsv3923692 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 77,061,780 | 92,460,406 |
| nsv3923692 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 77,635,915 | 93,112,659 |
| nsv3923692 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 76,533,916 | 91,910,660 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161542 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136886.4, VCV000147734.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161542 | Submitted genomic | NC_000013.11:g.(?_ 77061780)_(9246040 6_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 77,061,780 | 92,460,406 |
| nssv15161542 | Submitted genomic | NC_000013.10:g.(?_ 77635915)_(9311265 9_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 77,635,915 | 93,112,659 |
| nssv15161542 | Submitted genomic | NC_000013.9:g.(?_7 6533916)_(91910660 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 76,533,916 | 91,910,660 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161542 | GRCh37: NC_000013.10:g.(?_77635915)_(93112659_?)del, GRCh38: NC_000013.11:g.(?_77061780)_(92460406_?)del, NCBI36: NC_000013.9:g.(?_76533916)_(91910660_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136886.4, VCV000147734.2 | 1 |