A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040996



Internal ID18783527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77037138..77121673hg38UCSC Ensembl
Innerchr11:76748182..76832719hg19UCSC Ensembl
Innerchr11:76425830..76510367hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3884536
hg1984538
hg1884538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3506374
Samples
Known GenesB3GNT6, CAPN5, OMP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040996
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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