A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961751



Internal ID18867881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49528897..49549497hg38UCSC Ensembl
OuterchrX:49293500..49314100hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3820601
hg1920601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129078
Supporting Variants
SamplesKWS1
Known GenesGAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12G, GAGE12H, GAGE2A, GAGE2C, GAGE2E, GAGE8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961751
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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