A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599433



Internal ID16386842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114491590..114565393hg38UCSC Ensembl
Innerchr5:113827287..113901090hg19UCSC Ensembl
Innerchr5:113855186..113928989hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3873804
hg1973804
hg1873804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040456
Samples
Known GenesKCNN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599433
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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