nsv3922910
- 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:2,081,025
- Description:GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)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: 8334 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 8201 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 2260 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922910 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 1,132,899 | 3,213,923 |
| nsv3922910 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,126,807 | 3,235,153 |
| nsv3922910 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 1,116,807 | 3,191,729 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161571 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142464.4, VCV000154397.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161571 | Submitted genomic | NC_000011.10:g.(?_ 1132899)_(3213923_ ?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,132,899 | 3,213,923 |
| nssv15161571 | Submitted genomic | NC_000011.9:g.(?_1 126807)_(3235153_? )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,126,807 | 3,235,153 |
| nssv15161571 | Submitted genomic | NC_000011.8:g.(?_1 116807)_(3191729_? )del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 1,116,807 | 3,191,729 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161571 | GRCh37: NC_000011.9:g.(?_1126807)_(3235153_?)del, GRCh38: NC_000011.10:g.(?_1132899)_(3213923_?)del, NCBI36: NC_000011.8:g.(?_1116807)_(3191729_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142464.4, VCV000154397.2 | 1 |