A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511290



Internal ID15504029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71037342..71072118hg38UCSC Ensembl
Outerchr5:71012660..71072745hg38UCSC Ensembl
Innerchr5:70333169..70367945hg19UCSC Ensembl
Outerchr5:70308487..70368572hg19UCSC Ensembl
Innerchr5:70368925..70403701hg18UCSC Ensembl
Outerchr5:70344243..70404328hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3860086
hg1960086
hg1860086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625121
Samples1
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511290
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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