A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16946244



Internal ID31522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20729875..20729934hg38UCSC Ensembl
chr4:20731498..20731557hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450461
Supporting Variants
Samples
Known GenesKCNIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16946244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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