nsv3915522
- 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:5,891,205
- Description:GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)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: 15051 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 15018 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3980 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915522 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 126,859,732 | 132,750,936 |
| nsv3915522 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 126,499,786 | 132,435,696 |
| nsv3915522 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 126,287,022 | 132,086,236 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133245 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054171.4, VCV000060295.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133245 | Submitted genomic | NC_000007.14:g.(?_ 126859732)_(132750 936_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 126,859,732 | 132,750,936 |
| nssv15133245 | Submitted genomic | NC_000007.13:g.(?_ 126499786)_(132435 696_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 126,499,786 | 132,435,696 |
| nssv15133245 | Submitted genomic | NC_000007.12:g.(?_ 126287022)_(132086 236_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 126,287,022 | 132,086,236 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133245 | GRCh37: NC_000007.13:g.(?_126499786)_(132435696_?)del, GRCh38: NC_000007.14:g.(?_126859732)_(132750936_?)del, NCBI36: NC_000007.12:g.(?_126287022)_(132086236_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000054171.4, VCV000060295.1 | 1 |