A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593531



Internal ID16380940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6782340..6783751hg38UCSC Ensembl
Innerchr4:6784067..6785478hg19UCSC Ensembl
Innerchr4:6834968..6836379hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381412
hg191412
hg181412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8938n54
Supporting Variantsnssv990233, nssv990230, nssv990236, nssv990231, nssv990229, nssv990232, nssv990234, nssv990235
Samples
Known GenesKIAA0232
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593531
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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