A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124647



Internal ID18921175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:110209275..110213375hg38UCSC Ensembl
Outerchr11:110080000..110084100hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv721n106
Supporting Variantsnssv3976702
SamplesKWS2
Known GenesRDX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124647
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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