nsv3911276
- 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:8,441,480
- Description:GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)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: 25241 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 25079 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 6302 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911276 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 69,382,353 | 77,823,832 |
| nsv3911276 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 68,847,339 | 77,453,149 |
| nsv3911276 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 68,485,275 | 77,291,085 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147200 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054111.5, VCV000060237.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147200 | Submitted genomic | NC_000007.14:g.(?_ 69382353)_(7782383 2_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 69,382,353 | 77,823,832 |
| nssv15147200 | Submitted genomic | NC_000007.13:g.(?_ 68847339)_(7745314 9_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 68,847,339 | 77,453,149 |
| nssv15147200 | Submitted genomic | NC_000007.12:g.(?_ 68485275)_(7729108 5_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 68,485,275 | 77,291,085 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147200 | GRCh37: NC_000007.13:g.(?_68847339)_(77453149_?)del, GRCh38: NC_000007.14:g.(?_69382353)_(77823832_?)del, NCBI36: NC_000007.12:g.(?_68485275)_(77291085_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000054111.5, VCV000060237.1 | 1 |