A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947351



Internal ID16241307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42137384..42137882hg38UCSC Ensembl
Innerchr21:43557494..43557992hg19UCSC Ensembl
Innerchr21:42430563..42431061hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587626
Supporting Variants
Samples
Known GenesUMODL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv947351
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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