A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588779



Internal ID16029502
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 StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv954376, nssv954375, nssv1151640, nssv1151643, nssv1151641, nssv1151642
SamplesNINDS_209, 1780862356_A, 1780854467_A, 1798860592_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)nsv588779
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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