A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519825



Internal ID15100432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66308516..66326565hg38UCSC Ensembl
Innerchr17:64304634..64322683hg19UCSC Ensembl
Innerchr17:61735096..61753145hg18UCSC Ensembl
Innerchr17:61735096..61753145hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3818050
hg1918050
hg1818050
hg1718050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697071
Samples
Known GenesPRKCA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519825
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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