A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833780



Internal ID19559180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43365632..43609632hg38UCSC Ensembl
chr17:41443000..41687000hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38244001
hg19244001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4267582
Supporting Variants
Samples
Known GenesARL4D, DHX8, ETV4, LINC00910, MIR2117
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)nssv15833780
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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