A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952545



Internal ID19677799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88008552..88008703hg38UCSC Ensembl
chr14:88474896..88475047hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4229472
Supporting Variants
Samples
Known GenesGPR65
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)nssv15952545
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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