A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596050



Internal ID16036773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165207363..165208021hg38UCSC Ensembl
Innerchr4:166128515..166129173hg19UCSC Ensembl
Innerchr4:166347965..166348623hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38659
hg19659
hg18659
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1012550, nssv1012545, nssv1012548, nssv1012549, nssv1012551, nssv1012547, nssv1012546
Samples
Known GenesKLHL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596050
Frequency
Sample Size17421
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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