A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066547



Internal ID19155766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10536307..10753328hg38UCSC Ensembl
Innerchr21:10759129..10976150hg19UCSC Ensembl
Innerchr21:9781000..9998021hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38217022
hg19217022
hg18217022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4351n100
Supporting Variantsnssv3585009
Samples
Known GenesTPTE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066547
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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