A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588887



Internal ID16029610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30557534..30599369hg38UCSC Ensembl
Innerchr22:30953521..30995356hg19UCSC Ensembl
Innerchr22:29283521..29325356hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3841836
hg1941836
hg1841836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv954561
Samples
Known GenesGAL3ST1, PES1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588887
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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