nsv4684274
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,834,106
- Description:GRCh37/hg19 7q22.1(chr7:99593346-102470275)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: 10375 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 10274 SVs from 123 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684274 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 99,995,723 | 102,829,828 |
| nsv4684274 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 99,593,346 | 102,470,275 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215322 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV001195072.1, VCV000929826.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215322 | Remapped | Good | NC_000007.14:g.(?_ 99995723)_(1028298 28_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 99,995,723 | 102,829,828 |
| nssv16215322 | Submitted genomic | NC_000007.13:g.(?_ 99593346)_(1024702 75_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 99,593,346 | 102,470,275 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215322 | GRCh37: NC_000007.13:g.(?_99593346)_(102470275_?)del | copy number loss | unknown | See cases | Likely pathogenic | ClinVar | RCV001195072.1, VCV000929826.1 | 1 |