A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062482



Internal ID19151701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13193869..13715620hg38UCSC Ensembl
Innerchr21:14566190..15087941hg19UCSC Ensembl
Innerchr21:13488061..14009812hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38521752
hg19521752
hg18521752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4382n100
Supporting Variantsnssv3732564
Samples
Known GenesLOC100288966, MIR3156-3, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062482
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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