nsv6291388
- 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:216,368
- Description:GRCh37/hg19 7p11.2(chr7:54395063-54611430)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: 702 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 702 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291388 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 54,327,370 | 54,543,737 |
| nsv6291388 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 54,395,063 | 54,611,430 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956976 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001833020.1, VCV001340298.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956976 | Remapped | Perfect | NC_000007.14:g.(?_ 54327370)_(5454373 7_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,327,370 | 54,543,737 |
| nssv17956976 | Submitted genomic | NC_000007.13:g.(?_ 54395063)_(5461143 0_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 54,395,063 | 54,611,430 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956976 | GRCh37: NC_000007.13:g.(?_54395063)_(54611430_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001833020.1, VCV001340298.1 | 3 |