A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026078



Internal ID19115295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9222699..9591178hg38UCSC Ensembl
Innerchr5:9222811..9591290hg19UCSC Ensembl
Innerchr5:9275811..9644290hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38368480
hg19368480
hg18368480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5565n100
Supporting Variantsnssv3638107
Samples
Known GenesSEMA5A, SNHG18, SNORD123
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026078
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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