A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519847



Internal ID15100454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146786815..147433084hg38UCSC Ensembl
Innerchr5:146166378..146812647hg19UCSC Ensembl
Innerchr5:146146571..146792840hg18UCSC Ensembl
Innerchr5:146146571..146792840hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38646270
hg19646270
hg18646270
hg17646270
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674221, nssv659056, nssv682031, nssv682182, nssv700824, nssv680249
Samples
Known GenesDPYSL3, PPP2R2B, PPP2R2B-IT1, STK32A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519847
Frequency
Sample Size2026
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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