A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514125



Internal ID8780202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233740551..233749319hg38UCSC Ensembl
Innerchr2:234649197..234657965hg19UCSC Ensembl
Innerchr2:234313936..234322704hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388769
hg198769
hg188769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2878749, nssv2878750, nssv2878763, nssv2878760, nssv2878752, nssv2878764, nssv2878758, nssv2878754, nssv2878747, nssv2878762, nssv2878757, nssv2878759, nssv2878765, nssv2878748, nssv2878751, nssv2878756, nssv2878755, nssv2878761, nssv2878753
SamplesNA18863, NA18861, NA21438, NA21524, NA18523, NA21478, NA21487, NA18517, NA19109, NA18934, NA19107, NA19096, NA21363, NA21525, NA21717, NA21485, NA21486, NA21439, NA19097
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514125
Frequency
Sample Size2366
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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