A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152758



Internal ID18848677
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 StatusM
Merged Variants
Supporting Variantsnssv3999940
SamplesKWB1
Known GenesGAGE12F, GAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152758
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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