A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051062



Internal ID18793593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:796542..933569hg38UCSC Ensembl
Innerchr11:796542..933569hg19UCSC Ensembl
Innerchr11:786542..923569hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38137028
hg19137028
hg18137028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1013n100
Supporting Variantsnssv3513521
Samples
Known GenesAP2A2, CD151, CHID1, EFCAB4A, PIDD, PNPLA2, POLR2L, RPLP2, SLC25A22, SNORA52, TSPAN4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051062
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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