A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594002



Internal ID16381411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38663996..38664990hg38UCSC Ensembl
Innerchr4:38665617..38666611hg19UCSC Ensembl
Innerchr4:38342012..38343006hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38995
hg19995
hg18995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9014n54
Supporting Variantsnssv995920, nssv995919, nssv995921
Samples
Known GenesFLJ13197, KLF3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594002
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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