A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709704



Internal ID133370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84167786..84384776hg38UCSC Ensembl
chr16:84201392..84418382hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38216991
hg19216991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529109
Supporting Variants
Samples
Known GenesADAD2, ATP2C2, DNAAF1, KCNG4, TAF1C, WFDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709704
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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