nsv3892955
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:78,569,196
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 212741 SVs from 153 studies. See in: genome view
Overlapping variant regions from other studies: 216409 SVs from 153 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3892955 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 101,888,909 |
nsv3892955 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,770,422 | 102,429,112 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15150618 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510717.2, VCV000442893.2 | 3 |
nssv15150717 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512019.2, VCV000442892.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15150618 | Remapped | Good | NC_000015.10:g.(?_ 23319714)_(1018889 09_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 101,888,909 |
nssv15150717 | Remapped | Good | NC_000015.10:g.(?_ 23319714)_(1018889 09_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 101,888,909 |
nssv15150618 | Submitted genomic | NC_000015.9:g.(?_2 2770422)_(10242911 2_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,770,422 | 102,429,112 | ||
nssv15150717 | Submitted genomic | NC_000015.9:g.(?_2 2770422)_(10242911 2_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,770,422 | 102,429,112 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15150618 | GRCh37: NC_000015.9:g.(?_22770422)_(102429112_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000510717.2, VCV000442893.2 | 3 |
nssv15150717 | GRCh37: NC_000015.9:g.(?_22770422)_(102429112_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000512019.2, VCV000442892.2 |