nsv3913842
- 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:9,956,484
- Description:GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)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: 28424 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 28430 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 7315 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 |
|---|---|---|---|---|---|---|---|
| nsv3913842 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 39,179,252 | 49,135,735 |
| nsv3913842 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 39,200,802 | 49,157,287 |
| nsv3913842 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 39,157,378 | 49,113,863 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161548 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137391.5, VCV000148316.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161548 | Submitted genomic | NC_000011.10:g.(?_ 39179252)_(4913573 5_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 39,179,252 | 49,135,735 |
| nssv15161548 | Submitted genomic | NC_000011.9:g.(?_3 9200802)_(49157287 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 39,200,802 | 49,157,287 |
| nssv15161548 | Submitted genomic | NC_000011.8:g.(?_3 9157378)_(49113863 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 39,157,378 | 49,113,863 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161548 | GRCh37: NC_000011.9:g.(?_39200802)_(49157287_?)del, GRCh38: NC_000011.10:g.(?_39179252)_(49135735_?)del, NCBI36: NC_000011.8:g.(?_39157378)_(49113863_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137391.5, VCV000148316.2 | 1 |