nsv3923859
- 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:22,307,576
- Description:GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 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: 65975 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 65513 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 17225 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923859 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 111,313,099 | 133,620,674 |
| nsv3923859 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 113,072,857 | 135,434,178 |
| nsv3923859 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 113,062,847 | 135,284,168 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146227 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051218.7, VCV000057507.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146227 | Submitted genomic | NC_000010.11:g.(?_ 111313099)_(133620 674_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 111,313,099 | 133,620,674 |
| nssv15146227 | Submitted genomic | NC_000010.10:g.(?_ 113072857)_(135434 178_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 113,072,857 | 135,434,178 |
| nssv15146227 | Submitted genomic | NC_000010.9:g.(?_1 13062847)_(1352841 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 113,062,847 | 135,284,168 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146227 | GRCh37: NC_000010.10:g.(?_113072857)_(135434178_?)dup, GRCh38: NC_000010.11:g.(?_111313099)_(133620674_?)dup, NCBI36: NC_000010.9:g.(?_113062847)_(135284168_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051218.7, VCV000057507.1 | 3 |