A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520305



Internal ID15100912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43756077..43826445hg38UCSC Ensembl
Innerchr21:45175958..45246326hg19UCSC Ensembl
Innerchr21:44000386..44070754hg18UCSC Ensembl
Innerchr21:44000386..44070754hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3870369
hg1970369
hg1870369
hg1770369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694374
Samples
Known GenesCSTB, LOC284837, PDXK, RRP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520305
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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