A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052397



Internal ID18794928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:47653918..48572704hg38UCSC Ensembl
Innerchr11:47675470..48594256hg19UCSC Ensembl
Innerchr11:47632046..48550832hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38918787
hg19918787
hg18918787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1111n100
Supporting Variantsnssv3519224
Samples
Known GenesAGBL2, FNBP4, NUP160, OR4A47, OR4B1, OR4C3, OR4C45, OR4S1, OR4X1, OR4X2, PTPRJ
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052397
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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