A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972007



Internal ID48698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114476726..114478463hg38UCSC Ensembl
chr5:113812423..113814160hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464015
Supporting Variants
Samples
Known GenesKCNN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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