A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709712



Internal ID133378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84324842..84526750hg38UCSC Ensembl
chr16:84358448..84560356hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38201909
hg19201909
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532924
Supporting Variants
Samples
Known GenesATP2C2, TLDC1, WFDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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