A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027493



Internal ID19116712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176043309..176188955hg38UCSC Ensembl
Innerchr5:175470312..175615958hg19UCSC Ensembl
Innerchr5:175402918..175548564hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38145647
hg19145647
hg18145647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5834n100
Supporting Variantsnssv3649194
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027493
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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