A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833834



Internal ID19559234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44550532..44687632hg38UCSC Ensembl
chr17:42627900..42765000hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38137101
hg19137101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4261608
Supporting Variants
Samples
Known GenesC17orf104, CCDC43, FZD2
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)nssv15833834
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000095


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