A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005011



Internal ID18747542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:105540533..105574862hg38UCSC Ensembl
Innerchr4:106461690..106496019hg19UCSC Ensembl
Innerchr4:106681139..106715468hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3834330
hg1934330
hg1834330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5354n100
Supporting Variantsnssv3632408, nssv3632407
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)nsv1005011
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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