nsv3921639
- 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:1,964,239
- Description:GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)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: 5693 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 5693 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 1196 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921639 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 65,741,431 | 67,705,669 |
| nsv3921639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 65,508,902 | 67,473,140 |
| nsv3921639 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 65,265,478 | 67,229,716 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148225 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142881.4, VCV000154814.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148225 | Submitted genomic | NC_000011.10:g.(?_ 65741431)_(6770566 9_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 65,741,431 | 67,705,669 |
| nssv15148225 | Submitted genomic | NC_000011.9:g.(?_6 5508902)_(67473140 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 65,508,902 | 67,473,140 |
| nssv15148225 | Submitted genomic | NC_000011.8:g.(?_6 5265478)_(67229716 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 65,265,478 | 67,229,716 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148225 | GRCh37: NC_000011.9:g.(?_65508902)_(67473140_?)del, GRCh38: NC_000011.10:g.(?_65741431)_(67705669_?)del, NCBI36: NC_000011.8:g.(?_65265478)_(67229716_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000142881.4, VCV000154814.2 | 1 |