A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588894



Internal ID16029617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31437773..31581608hg38UCSC Ensembl
Innerchr22:31833759..31977594hg19UCSC Ensembl
Innerchr22:30163759..30307594hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38143836
hg19143836
hg18143836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv954613
Samples
Known GenesEIF4ENIF1, SFI1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588894
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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