nsv3875235
- 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:181,179,327
- 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: 471774 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 471413 SVs from 152 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3875235 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 113,462 | 181,292,788 |
nsv3875235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 113,577 | 180,719,789 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15151111 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510723.2, VCV000441920.2 | |
nssv15151221 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512039.2, VCV000441919.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15151111 | Remapped | Good | NC_000005.10:g.(?_ 113462)_(181292788 _?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 113,462 | 181,292,788 |
nssv15151221 | Remapped | Good | NC_000005.10:g.(?_ 113462)_(181292788 _?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 113,462 | 181,292,788 |
nssv15151111 | Submitted genomic | NC_000005.9:g.(?_1 13577)_(180719789_ ?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 113,577 | 180,719,789 | ||
nssv15151221 | Submitted genomic | NC_000005.9:g.(?_1 13577)_(180719789_ ?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 113,577 | 180,719,789 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15151111 | GRCh37: NC_000005.9:g.(?_113577)_(180719789_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000510723.2, VCV000441920.2 | |
nssv15151221 | GRCh37: NC_000005.9:g.(?_113577)_(180719789_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000512039.2, VCV000441919.2 | 3 |