A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588789



Internal ID16376198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25489221hg38UCSC Ensembl
Innerchr22:25664408..25885188hg19UCSC Ensembl
Innerchr22:23994408..24215188hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38220781
hg19220781
hg18220781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8075n54
Supporting Variantsnssv1151662
Samples1780854235_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)nsv588789
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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