A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020314



Internal ID19109533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73758431..73865733hg38UCSC Ensembl
Innerchr5:73054256..73161558hg19UCSC Ensembl
Innerchr5:73090012..73197314hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38107303
hg19107303
hg18107303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3641072
Samples
Known GenesARHGEF28
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020314
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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