A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129158



Internal ID19279367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120328595..120328681hg38UCSC Ensembl
Outerchr11:120199304..120199390hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962588
SamplesKWS1
Known GenesTMEM136
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129158
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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