A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067497



Internal ID19156716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54529702..55135281hg38UCSC Ensembl
Innerchr20:53146241..53751820hg19UCSC Ensembl
Innerchr20:52579648..53185227hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38605580
hg19605580
hg18605580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587571, nssv3587570
Samples
Known GenesDOK5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067497
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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