A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056765



Internal ID18799296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66490150..66665772hg38UCSC Ensembl
Innerchr17:64486268..64661890hg19UCSC Ensembl
Innerchr17:61916730..62092352hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38175623
hg19175623
hg18175623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567734
Samples
Known GenesPRKCA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056765
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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