A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999025



Internal ID18844473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49542896..49545897hg38UCSC Ensembl
OuterchrX:49307499..49310500hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151845
Supporting Variants
SamplesKWB1
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999025
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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