A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589049



Internal ID16029772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41168704..41276267hg38UCSC Ensembl
Innerchr22:41564708..41672271hg19UCSC Ensembl
Innerchr22:39894654..40002217hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38107564
hg19107564
hg18107564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957088
Samples
Known GenesCHADL, EP300, L3MBTL2, MIR6889, RANGAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589049
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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