A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588201



Internal ID16375610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18922407..18959084hg38UCSC Ensembl
Innerchr22:18909920..18946597hg19UCSC Ensembl
Innerchr22:17289920..17326597hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3836678
hg1936678
hg1836678
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951683
Samples
Known GenesPRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588201
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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