A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976806



Internal ID19702060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64584324..64732495hg38UCSC Ensembl
chr5:63880151..64028322hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38148172
hg19148172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4112805
Supporting Variants
Samples
Known GenesFAM159B, RGS7BP, SREK1IP1
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)nssv15976806
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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