A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076708



Internal ID18976422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49542896..49545197hg38UCSC Ensembl
chrX:49307499..49309800hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764872
SamplesKWP1
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076708
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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