A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514545



Internal ID15812906
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2769997, nssv2771636, nssv2770475, nssv2775206, nssv2772473, nssv2776356, nssv2769399, nssv2774666, nssv2777577, nssv2771685, nssv2778299, nssv2769192, nssv2776410, nssv2774593, nssv2770506, nssv2773664, nssv2770556, nssv2769681, nssv2774354, nssv2773720, nssv2777012, nssv2769139, nssv2771655, nssv2770736, nssv2778169
SamplesNA21423, NA19204, NA21360, NA21522, NA19198, NA12287, NA19199, NA21362, NA21494, NA12489, NA18516, NA18948, NA12234, NA19181, NA12892, NA18853, NA19095, NA21309, NA19183, NA21425, NA21361, NA18501, NA18854, NA21312, NA19224
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)nsv514545
Frequency
Sample Size2366
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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