A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999940



Internal ID18840627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49344797..49347612hg38UCSC Ensembl
OuterchrX:49229799..49232800hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382816
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152758
Supporting Variants
SamplesKWB1
Known GenesGAGE12F, GAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999940
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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