A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040859



Internal ID18783390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95152030..95265603hg38UCSC Ensembl
Innerchr12:95545806..95659379hg19UCSC Ensembl
Innerchr12:94069937..94183510hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38113574
hg19113574
hg18113574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712589
Samples
Known GenesFGD6, VEZT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040859
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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