A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2769139



Internal ID15760001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133418554..133563882hg38UCSC Ensembl
Innerchr10:135232058..135377386hg19UCSC Ensembl
Innerchr10:135082048..135227376hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38145329
hg19145329
hg18145329
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514545
Supporting Variants
SamplesNA19199
Known GenesCYP2E1, MTG1, SCART1, SPRN, SYCE1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2769139
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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