nsv3898448
- 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:13,006,937
- Description:GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)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: 31874 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 31875 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898448 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 30,424,270 | 43,431,206 |
| nsv3898448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 30,463,886 | 43,470,805 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15154527 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000682909.1, VCV000563420.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15154527 | Remapped | Perfect | NC_000007.14:g.(?_ 30424270)_(4343120 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 30,424,270 | 43,431,206 |
| nssv15154527 | Submitted genomic | NC_000007.13:g.(?_ 30463886)_(4347080 5_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 30,463,886 | 43,470,805 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15154527 | GRCh37: NC_000007.13:g.(?_30463886)_(43470805_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000682909.1, VCV000563420.1 | 3 |