nsv7095753
- 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:181,917
- Description:NC_000001.10:g.(?_153782653)_(153964569_?)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: 567 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 576 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095753 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 153,810,177 | 153,992,093 |
| nsv7095753 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 153,782,653 | 153,964,569 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788771 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003109731.2, VCV002426580.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788771 | Remapped | Perfect | NC_000001.11:g.(?_ 153810177)_(153992 093_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 153,810,177 | 153,992,093 |
| nssv18788771 | Submitted genomic | NC_000001.10:g.(?_ 153782653)_(153964 569_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 153,782,653 | 153,964,569 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788771 | GRCh37: NC_000001.10:g.(?_153782653)_(153964569_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003109731.2, VCV002426580.2 |