A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043248



Internal ID19132467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120368253..120428889hg38UCSC Ensembl
Innerchr11:120238962..120299598hg19UCSC Ensembl
Innerchr11:119744172..119804808hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3860637
hg1960637
hg1860637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1287n100
Supporting Variantsnssv3516039
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)nsv1043248
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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