A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2989051



Internal ID15261212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49581989..49611142hg38UCSC Ensembl
InnerchrX:49346592..49375745hg19UCSC Ensembl
InnerchrX:49233536..49262692hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3829154
hg1929154
hg1829157
Variant TypeCNV gain
Copy Number39
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515203
Supporting Variants
SamplesNA10864
Known GenesGAGE1, GAGE12C, GAGE12D, GAGE12E, GAGE12H, GAGE2A
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2989051
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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