A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469331



Internal ID247120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114468283..114468338hg38UCSC Ensembl
chr5:113803980..113804035hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972005
Samples
Known GenesKCNN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469331
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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