A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2988673



Internal ID15312583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49332106..49332832hg38UCSC Ensembl
InnerchrX:49188584..49189344hg19UCSC Ensembl
InnerchrX:49075528..49076288hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38727
hg19761
hg18761
Variant TypeCNV gain
Copy Number52
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515202
Supporting Variants
SamplesNA12889
Known GenesGAGE13, GAGE2E, GAGE8
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2988673
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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