A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146937



Internal ID19196394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45797285..45799186hg38UCSC Ensembl
Outerchr21:47217199..47219100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998299
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146937
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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