A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707050



Internal ID130716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:61995838..62000413hg38UCSC Ensembl
chr16:62029742..62034317hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg384576
hg194576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516082
Supporting Variants
Samples
Known GenesCDH8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707050
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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