A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151712



Internal ID15526859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25291547..25513288hg38UCSC Ensembl
Innerchr22:25687514..25909255hg19UCSC Ensembl
Innerchr22:24017514..24239255hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38221742
hg19221742
hg18221742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588820
Supporting Variants
SamplesHGDP00234
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)nssv1151712
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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