A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067340



Internal ID19156559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9756765..9903299hg38UCSC Ensembl
Innerchr20:9737413..9883947hg19UCSC Ensembl
Innerchr20:9685413..9831947hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38146535
hg19146535
hg18146535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4243n100
Supporting Variantsnssv3599374, nssv3599373
Samples
Known GenesPAK7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067340
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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