nsv4729810
- 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:3,568,250
- Description:GRCh37/hg19 17p11.2(chr17:16761814-20330062)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: 9823 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 9823 SVs from 129 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4729810 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 16,858,500 | 20,426,749 |
nsv4729810 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 16,761,814 | 20,330,062 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16254268 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259290.2, VCV000980114.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16254268 | Remapped | Perfect | NC_000017.11:g.(?_ 16858500)_(2042674 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 16,858,500 | 20,426,749 |
nssv16254268 | Submitted genomic | NC_000017.10:g.(?_ 16761814)_(2033006 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 16,761,814 | 20,330,062 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16254268 | GRCh37: NC_000017.10:g.(?_16761814)_(20330062_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001259290.2, VCV000980114.2 | 3 |