A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146889



Internal ID19196581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9062666..9064867hg38UCSC Ensembl
Outerchr21:9901499..9903700hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998251
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146889
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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