A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966049



Internal ID19691308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19297505..19536506hg38UCSC Ensembl
chr1:19623999..19863000hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38239002
hg19239002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518161
Supporting Variants
Samples
Known GenesAKR7A2, CAPZB, PQLC2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15966049
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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