A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3710754



Internal ID18662349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117287202..117403925hg38UCSC Ensembl
Innerchr11:117157918..117274641hg19UCSC Ensembl
Innerchr11:116663128..116779851hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38116724
hg19116724
hg18116724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038815
Supporting Variants
Samples
Known GenesBACE1, BACE1-AS, CEP164
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3710754
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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