A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052364



Internal ID18794895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117390271..117479621hg38UCSC Ensembl
Innerchr11:117260987..117350336hg19UCSC Ensembl
Innerchr11:116766197..116855546hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3889351
hg1989350
hg1889350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519190
Samples
Known GenesCEP164, DSCAML1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052364
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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