A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027587



Internal ID19116806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:653454..773441hg38UCSC Ensembl
Innerchr5:653569..773556hg19UCSC Ensembl
Innerchr5:706569..826556hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38119988
hg19119988
hg18119988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5523n100
Supporting Variantsnssv3633231
Samples
Known GenesCEP72, TPPP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027587
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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