nsv3922177
- 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:11,296,243
- Description:GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)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: 27972 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 27980 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 7296 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922177 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 35,663,578 | 46,959,820 |
| nsv3922177 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 35,685,126 | 46,981,371 |
| nsv3922177 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 35,641,702 | 46,937,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161504 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052679.6, VCV000058889.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161504 | Submitted genomic | NC_000011.10:g.(?_ 35663578)_(4695982 0_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 35,663,578 | 46,959,820 |
| nssv15161504 | Submitted genomic | NC_000011.9:g.(?_3 5685126)_(46981371 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 35,685,126 | 46,981,371 |
| nssv15161504 | Submitted genomic | NC_000011.8:g.(?_3 5641702)_(46937947 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 35,641,702 | 46,937,947 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161504 | GRCh37: NC_000011.9:g.(?_35685126)_(46981371_?)del, GRCh38: NC_000011.10:g.(?_35663578)_(46959820_?)del, NCBI36: NC_000011.8:g.(?_35641702)_(46937947_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052679.6, VCV000058889.1 | 1 |