A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3520245



Internal ID18471840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85877876..86046651hg38UCSC Ensembl
Innerchr11:85588919..85757693hg19UCSC Ensembl
Innerchr11:85266567..85435341hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38168776
hg19168775
hg18168775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053808
Supporting Variants
Samples
Known GenesCCDC83, PICALM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3520245
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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