nsv4674694
- 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:992,164
- Description:GRCh37/hg19 4p15.32-15.31(chr4:16826786-17818949)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: 2689 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2689 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4674694 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 16,825,163 | 17,817,326 |
nsv4674694 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 16,826,786 | 17,818,949 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16206694 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001005526.1, VCV000814536.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16206694 | Remapped | Perfect | NC_000004.12:g.(?_ 16825163)_(1781732 6_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 16,825,163 | 17,817,326 |
nssv16206694 | Submitted genomic | NC_000004.11:g.(?_ 16826786)_(1781894 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 16,826,786 | 17,818,949 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16206694 | GRCh37: NC_000004.11:g.(?_16826786)_(17818949_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001005526.1, VCV000814536.1 | 3 |