nsv4729766
- 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:52,186
- Description:GRCh37/hg19 17p11.2(chr17:17216882-17269067)x1 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: 392 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 392 SVs from 65 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4729766 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 17,313,568 | 17,365,753 |
nsv4729766 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 17,216,882 | 17,269,067 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16254266 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001259288.1, VCV000980112.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16254266 | Remapped | Perfect | NC_000017.11:g.(?_ 17313568)_(1736575 3_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 17,313,568 | 17,365,753 |
nssv16254266 | Submitted genomic | NC_000017.10:g.(?_ 17216882)_(1726906 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 17,216,882 | 17,269,067 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16254266 | GRCh37: NC_000017.10:g.(?_17216882)_(17269067_?)del | copy number loss | germline | not provided | Likely benign | ClinVar | RCV001259288.1, VCV000980112.1 | 1 |