nsv3912079
- 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:25,518,088
- Description:GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)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: 72643 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 72181 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 18842 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 |
|---|---|---|---|---|---|---|---|
| nsv3912079 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 108,102,587 | 133,620,674 |
| nsv3912079 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 109,862,345 | 135,434,178 |
| nsv3912079 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 109,852,335 | 135,284,168 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161060 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133688.6, VCV000144206.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161060 | Submitted genomic | NC_000010.11:g.(?_ 108102587)_(133620 674_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 108,102,587 | 133,620,674 |
| nssv15161060 | Submitted genomic | NC_000010.10:g.(?_ 109862345)_(135434 178_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 109,862,345 | 135,434,178 |
| nssv15161060 | Submitted genomic | NC_000010.9:g.(?_1 09852335)_(1352841 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 109,852,335 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161060 | GRCh37: NC_000010.10:g.(?_109862345)_(135434178_?)dup, GRCh38: NC_000010.11:g.(?_108102587)_(133620674_?)dup, NCBI36: NC_000010.9:g.(?_109852335)_(135284168_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000133688.6, VCV000144206.2 | 3 |