A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130514



Internal ID18929820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133458534..133458616hg38UCSC Ensembl
Outerchr11:133328429..133328511hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966827
SamplesKWS1
Known GenesOPCML
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130514
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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