A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972006



Internal ID48697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114475311..114475566hg38UCSC Ensembl
chr5:113811008..113811263hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461958
Supporting Variants
Samples
Known GenesKCNN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972006
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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