A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv954393



Internal ID16248349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25501363hg38UCSC Ensembl
Innerchr22:25664408..25897330hg19UCSC Ensembl
Innerchr22:23994408..24227330hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38232923
hg19232923
hg18232923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588790
Supporting Variants
Samples
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)nssv954393
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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