A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054682



Internal ID18797213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124971689..125071733hg38UCSC Ensembl
Innerchr11:124841585..124941629hg19UCSC Ensembl
Innerchr11:124346795..124446839hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38100045
hg19100045
hg18100045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710762
Samples
Known GenesCCDC15, SLC37A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054682
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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