A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2910173



Internal ID15427320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68521247..68617599hg38UCSC Ensembl
Innerchr4:69386965..69483317hg19UCSC Ensembl
Innerchr4:69069560..69165912hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3896353
hg1996353
hg1896353
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514223
Supporting Variants
SamplesNA19677
Known GenesUGT2B17
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2910173
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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