nsv7097512
- 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:147,853
- Description:NC_000005.9:g.(?_139930285)_(140078137_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 360 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 359 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097512 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 140,550,700 | 140,698,552 |
| nsv7097512 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 139,930,285 | 140,078,137 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788265 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003107704.2, VCV002424471.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788265 | Remapped | Perfect | NC_000005.10:g.(?_ 140550700)_(140698 552_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,550,700 | 140,698,552 |
| nssv18788265 | Submitted genomic | NC_000005.9:g.(?_1 39930285)_(1400781 37_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 139,930,285 | 140,078,137 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788265 | GRCh37: NC_000005.9:g.(?_139930285)_(140078137_?)del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV003107704.2, VCV002424471.2 |