A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514169



Internal ID15465863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135124644..135125892hg38UCSC Ensembl
Innerchr3:134843486..134844734hg19UCSC Ensembl
Innerchr3:136326176..136327424hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381249
hg191249
hg181249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2888849, nssv2888847, nssv2888839, nssv2888846, nssv2888833, nssv2888858, nssv2888854, nssv2888851, nssv2888838, nssv2888853, nssv2888844, nssv2888840, nssv2888830, nssv2888852, nssv2888850, nssv2888848, nssv2888836, nssv2888837, nssv2888855, nssv2888832, nssv2888859, nssv2888845, nssv2888842, nssv2888856, nssv2888857, nssv2888834, nssv2888831, nssv2888835, nssv2888843, nssv2888841
SamplesNA19146, NA19127, NA18861, NA21490, NA19222, NA18874, NA19252, NA18516, NA19150, NA19210, NA19151, NA19211, NA18934, NA21686, NA19199, NA19197, NA21301, NA21359, NA19256, NA18875, NA19221, NA19258, NA21344, NA19097, NA21366, NA19205, NA19118, NA19095, NA19171, NA18935
Known GenesEPHB1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514169
Frequency
Sample Size2366
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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