A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589159



Internal ID16029882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48497621..48500768hg38UCSC Ensembl
Innerchr22:48893433..48896580hg19UCSC Ensembl
Innerchr22:47272097..47275244hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg383148
hg193148
hg183148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957275
Samples
Known GenesFAM19A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589159
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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