A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067453



Internal ID18809984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59471819..59640766hg38UCSC Ensembl
Innerchr17:57549180..57718127hg19UCSC Ensembl
Innerchr17:54903962..55072909hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38168948
hg19168948
hg18168948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567715
Samples
Known GenesCLTC, DHX40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067453
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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