nsv3911206
- 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:12,020,739
- Description:GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)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: 36045 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 36041 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 9460 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 |
|---|---|---|---|---|---|---|---|
| nsv3911206 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 4,802,753 | 16,823,491 |
| nsv3911206 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 4,844,945 | 16,865,490 |
| nsv3911206 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 4,834,945 | 16,905,496 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161044 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052500.6, VCV000058717.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161044 | Submitted genomic | NC_000010.11:g.(?_ 4802753)_(16823491 _?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 4,802,753 | 16,823,491 |
| nssv15161044 | Submitted genomic | NC_000010.10:g.(?_ 4844945)_(16865490 _?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 4,844,945 | 16,865,490 |
| nssv15161044 | Submitted genomic | NC_000010.9:g.(?_4 834945)_(16905496_ ?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 4,834,945 | 16,905,496 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161044 | GRCh37: NC_000010.10:g.(?_4844945)_(16865490_?)del, GRCh38: NC_000010.11:g.(?_4802753)_(16823491_?)del, NCBI36: NC_000010.9:g.(?_4834945)_(16905496_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052500.6, VCV000058717.1 | 1 |