nsv3921841
- 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:3,561,134
- Description:GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)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: 8326 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 8330 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2299 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 |
|---|---|---|---|---|---|---|---|
| nsv3921841 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 42,553,659 | 46,114,792 |
| nsv3921841 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 42,575,209 | 46,136,343 |
| nsv3921841 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 42,531,785 | 46,092,919 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161569 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142289.4, VCV000154181.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161569 | Submitted genomic | NC_000011.10:g.(?_ 42553659)_(4611479 2_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 42,553,659 | 46,114,792 |
| nssv15161569 | Submitted genomic | NC_000011.9:g.(?_4 2575209)_(46136343 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 42,575,209 | 46,136,343 |
| nssv15161569 | Submitted genomic | NC_000011.8:g.(?_4 2531785)_(46092919 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 42,531,785 | 46,092,919 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161569 | GRCh37: NC_000011.9:g.(?_42575209)_(46136343_?)del, GRCh38: NC_000011.10:g.(?_42553659)_(46114792_?)del, NCBI36: NC_000011.8:g.(?_42531785)_(46092919_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142289.4, VCV000154181.2 | 1 |