nsv7098167
- 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:1,330
- Description:NC_000008.10:g.(?_145137634)_(145138963_?)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: 218 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098167 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,082,731 | 144,084,060 |
| nsv7098167 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,137,634 | 145,138,963 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788302 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003107742.2, VCV002424759.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788302 | Remapped | Perfect | NC_000008.11:g.(?_ 144082731)_(144084 060_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,082,731 | 144,084,060 |
| nssv18788302 | Submitted genomic | NC_000008.10:g.(?_ 145137634)_(145138 963_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,137,634 | 145,138,963 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788302 | GRCh37: NC_000008.10:g.(?_145137634)_(145138963_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003107742.2, VCV002424759.2 |