A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064746



Internal ID19153965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:21250117..21735000hg38UCSC Ensembl
Innerchr21:22622437..23107320hg19UCSC Ensembl
Innerchr21:21544308..22029191hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38484884
hg19484884
hg18484884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4402n100
Supporting Variantsnssv3599885
Samples
Known GenesLINC00317, NCAM2, RNU6-67P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064746
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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