A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027183



Internal ID18769715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80541430..80580410hg38UCSC Ensembl
Innerchr5:79837249..79876229hg19UCSC Ensembl
Innerchr5:79873005..79911985hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3838981
hg1938981
hg1838981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5705n100
Supporting Variantsnssv3639053
Samples
Known GenesANKRD34B, FAM151B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027183
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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