nsv6634332
- 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:159,136,265
- Description:GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)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: 451784 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 450074 SVs from 152 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6634332 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 113,371 | 113,371 | 159,249,635 | 159,249,635 |
| nsv6634332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 113,371 | 56,604,613 | 96,692,931 | 159,042,325 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326438 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV002287832.1, VCV001708459.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18326438 | Remapped | Good | NC_000007.14:g.(11 3371_113371)_(1592 49635_159249635)de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 113,371 | 113,371 | 159,249,635 | 159,249,635 |
| nssv18326438 | Submitted genomic | NC_000007.13:g.(11 3371_56604613)_(96 692931_159042325)d el | GRCh37 (hg19) | NC_000007.13 | Chr7 | 113,371 | 56,604,613 | 96,692,931 | 159,042,325 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326438 | GRCh37: NC_000007.13:g.(113371_56604613)_(96692931_159042325)del | copy number loss | unknown | See cases | Uncertain significance | ClinVar | RCV002287832.1, VCV001708459.1 | 1 |