nsv3903092
- 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:58,184,610
- 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: 220607 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 218462 SVs from 146 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3903092 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 260,912 | 58,445,521 |
nsv3903092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 260,912 | 58,956,888 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15150638 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511289.2, VCV000443498.2 | 3 |
nssv15150782 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512296.2, VCV000443499.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15150638 | Remapped | Good | NC_000019.10:g.(?_ 260912)_(58445521_ ?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 260,912 | 58,445,521 |
nssv15150782 | Remapped | Good | NC_000019.10:g.(?_ 260912)_(58445521_ ?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 260,912 | 58,445,521 |
nssv15150638 | Submitted genomic | NC_000019.9:g.(?_2 60912)_(58956888_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 260,912 | 58,956,888 | ||
nssv15150782 | Submitted genomic | NC_000019.9:g.(?_2 60912)_(58956888_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 260,912 | 58,956,888 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15150638 | GRCh37: NC_000019.9:g.(?_260912)_(58956888_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000511289.2, VCV000443498.2 | 3 |
nssv15150782 | GRCh37: NC_000019.9:g.(?_260912)_(58956888_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000512296.2, VCV000443499.2 |