A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596051



Internal ID16383460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165207480..165208021hg38UCSC Ensembl
Innerchr4:166128632..166129173hg19UCSC Ensembl
Innerchr4:166348082..166348623hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38542
hg19542
hg18542
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9370n54
Supporting Variantsnssv1012554, nssv1012555, nssv1012553, nssv1012552, nssv1012556
Samples
Known GenesKLHL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596051
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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