A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402655



Internal ID182024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114420935..114420986hg38UCSC Ensembl
chr5:113756632..113756683hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972002
Samples
Known GenesKCNN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402655
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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