A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16051516



Internal ID19776770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188180797..188180798hg38UCSC Ensembl
chr3:187898585..187898586hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4553185
Supporting Variants
Samples
Known GenesFLJ42393, LPP
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)nssv16051516
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.132099


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