nsv3910067
- 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:8,726,112
- Description:GRCh38/hg38 7q33-35(chr7:135414108-144140219)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: 24874 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 24617 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 7317 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 |
|---|---|---|---|---|---|---|---|
| nsv3910067 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 135,414,108 | 144,140,219 |
| nsv3910067 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 135,098,857 | 143,837,312 |
| nsv3910067 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 134,749,397 | 143,468,245 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122030 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054173.5, VCV000060297.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122030 | Submitted genomic | NC_000007.14:g.(?_ 135414108)_(144140 219_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 135,414,108 | 144,140,219 |
| nssv15122030 | Submitted genomic | NC_000007.13:g.(?_ 135098857)_(143837 312_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 135,098,857 | 143,837,312 |
| nssv15122030 | Submitted genomic | NC_000007.12:g.(?_ 134749397)_(143468 245_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 134,749,397 | 143,468,245 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122030 | GRCh37: NC_000007.13:g.(?_135098857)_(143837312_?)del, GRCh38: NC_000007.14:g.(?_135414108)_(144140219_?)del, NCBI36: NC_000007.12:g.(?_134749397)_(143468245_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054173.5, VCV000060297.1 | 1 |