nsv3915089
- 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:464,788
- Description:GRCh38/hg38 10q26.3(chr10:131457389-131922176)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: 2209 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1833 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 509 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915089 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 131,457,389 | 131,922,176 |
| nsv3915089 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 133,255,652 | 133,728,500 |
| nsv3915089 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 133,145,642 | 133,585,670 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135237 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000136036.4, VCV000146797.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135237 | Submitted genomic | NC_000010.11:g.(?_ 131457389)_(131922 176_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 131,457,389 | 131,922,176 |
| nssv15135237 | Submitted genomic | NC_000010.10:g.(?_ 133255652)_(133728 500_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 133,255,652 | 133,728,500 |
| nssv15135237 | Submitted genomic | NC_000010.9:g.(?_1 33145642)_(1335856 70_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 133,145,642 | 133,585,670 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135237 | GRCh37: NC_000010.10:g.(?_133255652)_(133728500_?)dup, GRCh38: NC_000010.11:g.(?_131457389)_(131922176_?)dup, NCBI36: NC_000010.9:g.(?_133145642)_(133585670_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000136036.4, VCV000146797.2 | 3 |