A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151641



Internal ID15508170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25513237hg38UCSC Ensembl
Innerchr22:25661725..25909204hg19UCSC Ensembl
Innerchr22:23991725..24239204hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38247480
hg19247480
hg18247480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588779
Supporting Variants
Samples1780862356_A
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)nssv1151641
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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