A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065418



Internal ID19154637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49637426..49664052hg38UCSC Ensembl
Innerchr20:48253963..48280589hg19UCSC Ensembl
Innerchr20:47687370..47713996hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3826627
hg1926627
hg1826627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584958
Samples
Known GenesB4GALT5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065418
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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