A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596049



Internal ID16383458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165207363..165207941hg38UCSC Ensembl
Innerchr4:166128515..166129093hg19UCSC Ensembl
Innerchr4:166347965..166348543hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38579
hg19579
hg18579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9370n54
Supporting Variantsnssv1012544
Samples
Known GenesKLHL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596049
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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