nsv3911283
- 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:3,425,911
- Description:GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)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: 10948 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 10948 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 3166 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911283 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 26,823,016 | 30,248,926 |
| nsv3911283 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 27,111,945 | 30,537,855 |
| nsv3911283 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 27,151,951 | 30,577,861 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136827 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139515.4, VCV000150697.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136827 | Submitted genomic | NC_000010.11:g.(?_ 26823016)_(3024892 6_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 26,823,016 | 30,248,926 |
| nssv15136827 | Submitted genomic | NC_000010.10:g.(?_ 27111945)_(3053785 5_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 27,111,945 | 30,537,855 |
| nssv15136827 | Submitted genomic | NC_000010.9:g.(?_2 7151951)_(30577861 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 27,151,951 | 30,577,861 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136827 | GRCh37: NC_000010.10:g.(?_27111945)_(30537855_?)del, GRCh38: NC_000010.11:g.(?_26823016)_(30248926_?)del, NCBI36: NC_000010.9:g.(?_27151951)_(30577861_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139515.4, VCV000150697.2 | 1 |