A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151646



Internal ID15533760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25513844hg38UCSC Ensembl
Innerchr22:25661725..25909811hg19UCSC Ensembl
Innerchr22:23991725..24239811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248087
hg19248087
hg18248087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588780
Supporting Variants
SamplesNINDS_210
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151646
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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