A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129078



Internal ID18918060
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 StatusM
Merged Variants
Supporting Variantsnssv3961751
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)nsv1129078
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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