nsv3921313
- 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:6,040,366
- Description:GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)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: 20616 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 20620 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 5729 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921313 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 95,770,627 | 101,810,992 |
| nsv3921313 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 96,313,856 | 102,351,195 |
| nsv3921313 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 94,114,860 | 100,168,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147351 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136864.5, VCV000147708.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147351 | Submitted genomic | NC_000015.10:g.(?_ 95770627)_(1018109 92_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 95,770,627 | 101,810,992 |
| nssv15147351 | Submitted genomic | NC_000015.9:g.(?_9 6313856)_(10235119 5_?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 96,313,856 | 102,351,195 |
| nssv15147351 | Submitted genomic | NC_000015.8:g.(?_9 4114860)_(10016871 8_?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 94,114,860 | 100,168,718 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147351 | GRCh37: NC_000015.9:g.(?_96313856)_(102351195_?)del, GRCh38: NC_000015.10:g.(?_95770627)_(101810992_?)del, NCBI36: NC_000015.8:g.(?_94114860)_(100168718_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136864.5, VCV000147708.2 | 1 |