A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598740



Internal ID16039463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79023799..79055813hg38UCSC Ensembl
Innerchr5:78319622..78351636hg19UCSC Ensembl
Innerchr5:78355378..78387392hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3832015
hg1932015
hg1832015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153938
SamplesHGDP01262
Known GenesDMGDH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598740
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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