nsv7137114
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,218,811
- Description:GRCh37/hg19 15q26.3(chr15:99021824-101196161)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: 7705 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 7707 SVs from 111 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv7137114 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 98,452,884 | 98,452,884 | 100,671,694 | 100,671,694 |
| nsv7137114 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 98,996,113 | 99,021,824 | 101,196,161 | 101,211,899 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18830776 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV003314260.1, VCV002572375.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18830776 | Remapped | Good | NC_000015.10:g.(98 452884_98452884)_( 100671694_10067169 4)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 98,452,884 | 98,452,884 | 100,671,694 | 100,671,694 |
| nssv18830776 | Submitted genomic | NC_000015.9:g.(989 96113_99021824)_(1 01196161_101211899 )del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 98,996,113 | 99,021,824 | 101,196,161 | 101,211,899 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18830776 | GRCh37: NC_000015.9:g.(98996113_99021824)_(101196161_101211899)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV003314260.1, VCV002572375.1 | 1 |