A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972003



Internal ID48694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114428221..114439573hg38UCSC Ensembl
chr5:113763918..113775270hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3811353
hg1911353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471332
Supporting Variants
Samples
Known GenesKCNN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972003
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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