A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461958



Internal ID239897
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 StatusM
Merged Variants
Supporting Variantsnssv16972006
Samples
Known GenesKCNN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461958
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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