A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018743



Internal ID19107960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:659283..800712hg38UCSC Ensembl
Innerchr5:659398..800827hg19UCSC Ensembl
Innerchr5:712398..853827hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38141430
hg19141430
hg18141430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5524n100
Supporting Variantsnssv3633235
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)nsv1018743
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer