A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593530



Internal ID16380939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6782340..6783611hg38UCSC Ensembl
Innerchr4:6784067..6785338hg19UCSC Ensembl
Innerchr4:6834968..6836239hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381272
hg191272
hg181272
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8937n54
Supporting Variantsnssv990223, nssv990227, nssv990225, nssv990224, nssv990228, nssv990226
Samples
Known GenesKIAA0232
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593530
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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