A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589149



Internal ID16029872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48494371..48498253hg38UCSC Ensembl
Innerchr22:48890183..48894065hg19UCSC Ensembl
Innerchr22:47268847..47272729hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg383883
hg193883
hg183883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957230
Samples
Known GenesFAM19A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589149
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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