A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514327



Internal ID15466015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147015220..147016628hg38UCSC Ensembl
Innerchr5:146394783..146396191hg19UCSC Ensembl
Innerchr5:146374976..146376384hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381409
hg191409
hg181409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2917802, nssv2917812, nssv2917792, nssv2917800, nssv2917797, nssv2917799, nssv2917815, nssv2917783, nssv2917782, nssv2917789, nssv2917791, nssv2917787, nssv2917784, nssv2917798, nssv2917804, nssv2917809, nssv2917806, nssv2917814, nssv2917796, nssv2917803, nssv2917807, nssv2917785, nssv2917793, nssv2917801, nssv2917786, nssv2917790, nssv2917813, nssv2917795, nssv2917794, nssv2917811, nssv2917805, nssv2917788, nssv2917808, nssv2917810
SamplesNA19012, NA18605, NA18594, NA18603, NA18953, NA18947, NA18573, NA18608, NA18524, NA18632, NA18998, NA18967, NA18576, NA18622, NA18960, NA18991, NA18592, NA18959, NA18547, NA18593, NA18970, NA19000, NA18633, NA18572, NA19005, NA18942, NA18974, NA18945, NA18552, NA18971, NA18571, NA18532, NA18555, NA18980
Known GenesPPP2R2B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514327
Frequency
Sample Size2366
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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