A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587742



Internal ID16375151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44248288..44283777hg38UCSC Ensembl
Innerchr21:45668171..45703660hg19UCSC Ensembl
Innerchr21:44492599..44528088hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3835490
hg1935490
hg1835490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948225
Samples
Known GenesDNMT3L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587742
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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