A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514113



Internal ID15812459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199314296..199317848hg38UCSC Ensembl
Innerchr2:200179019..200182571hg19UCSC Ensembl
Innerchr2:199887264..199890816hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383553
hg193553
hg183553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2879517, nssv2879518, nssv2879516, nssv2879514, nssv2879513, nssv2879515
SamplesNA19198, NA19199, NA18868, NA19200, NA18517, NA18869
Known GenesSATB2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514113
Frequency
Sample Size2366
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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