A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019891



Internal ID19109109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:625176..806209hg38UCSC Ensembl
Innerchr5:625291..806324hg19UCSC Ensembl
Innerchr5:678291..859324hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38181034
hg19181034
hg18181034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5522n100
Supporting Variantsnssv3633229
Samples
Known GenesCEP72, TPPP, ZDHHC11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019891
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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