A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15858492



Internal ID19583746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9569495..9570001hg38UCSC Ensembl
chr20:9550142..9550648hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4279880
Supporting Variants
Samples
Known GenesPAK7
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)nssv15858492
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.018995


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