nsv7098901
- 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:4,447,153
- Description:GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 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: 13207 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 13212 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098901 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 22,067,527 | 26,514,679 |
| nsv7098901 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 21,925,038 | 26,372,195 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18792722 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV003223292.2, VCV002499083.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792722 | Remapped | Perfect | NC_000008.11:g.(?_ 22067527)_(2651467 9_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 22,067,527 | 26,514,679 |
| nssv18792722 | Submitted genomic | NC_000008.10:g.(?_ 21925038)_(2637219 5_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 21,925,038 | 26,372,195 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18792722 | GRCh37: NC_000008.10:g.(?_21925038)_(26372195_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV003223292.2, VCV002499083.3 | 1 |