A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050709



Internal ID19139928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120375515..120405664hg38UCSC Ensembl
Innerchr11:120246224..120276373hg19UCSC Ensembl
Innerchr11:119751434..119781583hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3830150
hg1930150
hg1830150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1288n100
Supporting Variantsnssv3518704, nssv3504148
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)nsv1050709
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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