A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013019



Internal ID18755550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:105540533..105580255hg38UCSC Ensembl
Innerchr4:106461690..106501412hg19UCSC Ensembl
Innerchr4:106681139..106720861hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3839723
hg1939723
hg1839723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5354n100
Supporting Variantsnssv3632409, nssv3742937
Samples
Known GenesARHGEF38, ARHGEF38-IT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013019
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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