A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016713



Internal ID19105930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:588348..681187hg38UCSC Ensembl
Innerchr5:588463..681302hg19UCSC Ensembl
Innerchr5:641463..734302hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3892840
hg1992840
hg1892840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5521n100
Supporting Variantsnssv3633225
Samples
Known GenesCEP72, LOC100996325, TPPP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016713
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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