A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512642



Internal ID15852067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45027921..45029302hg38UCSC Ensembl
Outerchr21:46447836..46449217hg19UCSC Ensembl
Outerchr21:45272264..45273645hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381382
hg191382
hg181382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625258
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512642
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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