A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575896



Internal ID16016619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66414797..66475557hg38UCSC Ensembl
Innerchr17:64410915..64471675hg19UCSC Ensembl
Innerchr17:61841377..61902137hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3860761
hg1960761
hg1860761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149790
SamplesHGDP01400
Known GenesPRKCA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575896
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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