nsv6637693
- 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:903,146
- Description:GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)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: 3105 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3105 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637693 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 15,850,860 | 16,754,005 |
| nsv6637693 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 15,754,174 | 16,657,319 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329381 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475858.1, VCV001809485.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329381 | Remapped | Perfect | NC_000017.11:g.(?_ 15850860)_(1675400 5_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,850,860 | 16,754,005 |
| nssv18329381 | Submitted genomic | NC_000017.10:g.(?_ 15754174)_(1665731 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,754,174 | 16,657,319 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329381 | GRCh37: NC_000017.10:g.(?_15754174)_(16657319_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002475858.1, VCV001809485.1 | 3 |