A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2878753



Internal ID15381116
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514125
Supporting Variants
SamplesNA19097
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)nssv2878753
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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