A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048938



Internal ID18791469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107733747..108059223hg38UCSC Ensembl
Innerchr11:107604473..107929950hg19UCSC Ensembl
Innerchr11:107109683..107435160hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38325477
hg19325478
hg18325478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1276n100
Supporting Variantsnssv3519741
Samples
Known GenesCUL5, RAB39A, SLC35F2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048938
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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