A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075840



Internal ID18969882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114548977..114552178hg38UCSC Ensembl
chr11:114419699..114422900hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771197
SamplesKWP1
Known GenesNXPE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075840
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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