nsv4451013
- 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:225,322
- Description:Single allele 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: 615 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 615 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451013 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 133,498,845 | 133,724,166 |
| nsv4451013 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 133,183,599 | 133,408,919 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15771399 | deletion | Multiple | Multiple | not provided | not provided | ClinVar | RCV000845034.1, VCV000684514.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15771399 | Remapped | Perfect | NC_000007.14:g.(?_ 133498845)_(133724 166_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 133,498,845 | 133,724,166 |
| nssv15771399 | Submitted genomic | NC_000007.13:g.(?_ 133183599)_(133408 919_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 133,183,599 | 133,408,919 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15771399 | GRCh37: NC_000007.13:g.(?_133183599)_(133408919_?)del | deletion | unknown | not provided | not provided | ClinVar | RCV000845034.1, VCV000684514.1 | 1 |