A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588827



Internal ID16376236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25301030..25410982hg38UCSC Ensembl
Innerchr22:25696997..25806949hg19UCSC Ensembl
Innerchr22:24026997..24136949hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38109953
hg19109953
hg18109953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv954513
Samples
Known GenesIGLL3P, LRP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588827
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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