A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978362



Internal ID18891278
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 StatusS
Merged Variantsnsv1140026
Supporting Variants
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)nssv3978362
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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