A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025313



Internal ID19114531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:676322..809679hg38UCSC Ensembl
Innerchr5:676437..809794hg19UCSC Ensembl
Innerchr5:729437..862794hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38133358
hg19133358
hg18133358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5524n100
Supporting Variantsnssv3745330, nssv3633273, nssv3745331
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)nsv1025313
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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