nsv4456827
- 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:19,437,621
- Description:GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 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: 70947 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 70987 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456827 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 43,376 | 19,480,996 |
| nsv4456827 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 43,376 | 19,520,619 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772665 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848100.2, VCV000687401.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772665 | Remapped | Good | NC_000007.14:g.(?_ 43376)_(19480996_? )dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,376 | 19,480,996 |
| nssv15772665 | Submitted genomic | NC_000007.13:g.(?_ 43376)_(19520619_? )dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 43,376 | 19,520,619 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772665 | GRCh37: NC_000007.13:g.(?_43376)_(19520619_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000848100.2, VCV000687401.2 | 3 |