A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046430



Internal ID19135649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120368253..120423317hg38UCSC Ensembl
Innerchr11:120238962..120294026hg19UCSC Ensembl
Innerchr11:119744172..119799236hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3855065
hg1955065
hg1855065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1287n100
Supporting Variantsnssv3512955
Samples
Known GenesARHGEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046430
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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