nsv3911538
- 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:4,809,503
- Description:GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)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: 10236 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 10236 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 2739 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 |
|---|---|---|---|---|---|---|---|
| nsv3911538 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 92,759,144 | 97,568,646 |
| nsv3911538 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 92,388,458 | 97,197,958 |
| nsv3911538 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 92,226,394 | 97,035,894 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138208 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141756.5, VCV000153321.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138208 | Submitted genomic | NC_000007.14:g.(?_ 92759144)_(9756864 6_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 92,759,144 | 97,568,646 |
| nssv15138208 | Submitted genomic | NC_000007.13:g.(?_ 92388458)_(9719795 8_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 92,388,458 | 97,197,958 |
| nssv15138208 | Submitted genomic | NC_000007.12:g.(?_ 92226394)_(9703589 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 92,226,394 | 97,035,894 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138208 | GRCh37: NC_000007.13:g.(?_92388458)_(97197958_?)del, GRCh38: NC_000007.14:g.(?_92759144)_(97568646_?)del, NCBI36: NC_000007.12:g.(?_92226394)_(97035894_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000141756.5, VCV000153321.2 | 1 |