A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020729



Internal ID19109947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:676322..818628hg38UCSC Ensembl
Innerchr5:676437..818743hg19UCSC Ensembl
Innerchr5:729437..871743hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38142307
hg19142307
hg18142307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5524n100
Supporting Variantsnssv3633275, nssv3633274
Samples
Known GenesTPPP, ZDHHC11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020729
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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