A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587396



Internal ID16374805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:33449065..33462420hg38UCSC Ensembl
Innerchr21:34821372..34834727hg19UCSC Ensembl
Innerchr21:33743242..33756597hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3813356
hg1913356
hg1813356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv946646
Samples
Known GenesTMEM50B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587396
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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