nsv3913977
- 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:28,546,585
- Description:GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)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: 74219 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 74154 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 19691 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913977 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 78,232,836 | 106,779,420 |
| nsv3913977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 77,943,882 | 106,650,146 |
| nsv3913977 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 77,621,530 | 106,155,356 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161277 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052710.8, VCV000058918.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161277 | Submitted genomic | NC_000011.10:g.(?_ 78232836)_(1067794 20_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 78,232,836 | 106,779,420 |
| nssv15161277 | Submitted genomic | NC_000011.9:g.(?_7 7943882)_(10665014 6_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 77,943,882 | 106,650,146 |
| nssv15161277 | Submitted genomic | NC_000011.8:g.(?_7 7621530)_(10615535 6_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 77,621,530 | 106,155,356 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161277 | GRCh37: NC_000011.9:g.(?_77943882)_(106650146_?)del, GRCh38: NC_000011.10:g.(?_78232836)_(106779420_?)del, NCBI36: NC_000011.8:g.(?_77621530)_(106155356_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052710.8, VCV000058918.1 | 1 |