A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140026



Internal ID18911396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49540397..49600897hg38UCSC Ensembl
OuterchrX:49305000..49365500hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3860501
hg1960501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4237n106
Supporting Variantsnssv3978362
SamplesKWS2
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE6, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140026
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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