A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040345



Internal ID19129564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107954038..108053582hg38UCSC Ensembl
Innerchr11:107824764..107924309hg19UCSC Ensembl
Innerchr11:107329974..107429519hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3899545
hg1999546
hg1899546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3507577
Samples
Known GenesCUL5, RAB39A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040345
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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