nsv3915283
- 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:5,935,577
- Description:GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)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: 13878 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 13881 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3668 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915283 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 39,814,159 | 45,749,735 |
| nsv3915283 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 39,853,758 | 45,789,334 |
| nsv3915283 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 39,820,283 | 45,755,859 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121207 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053132.5, VCV000059304.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121207 | Submitted genomic | NC_000007.14:g.(?_ 39814159)_(4574973 5_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 39,814,159 | 45,749,735 |
| nssv15121207 | Submitted genomic | NC_000007.13:g.(?_ 39853758)_(4578933 4_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 39,853,758 | 45,789,334 |
| nssv15121207 | Submitted genomic | NC_000007.12:g.(?_ 39820283)_(4575585 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 39,820,283 | 45,755,859 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121207 | GRCh37: NC_000007.13:g.(?_39853758)_(45789334_?)del, GRCh38: NC_000007.14:g.(?_39814159)_(45749735_?)del, NCBI36: NC_000007.12:g.(?_39820283)_(45755859_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053132.5, VCV000059304.1 | 1 |