A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588804



Internal ID16376213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25532662hg38UCSC Ensembl
Innerchr22:25664408..25928629hg19UCSC Ensembl
Innerchr22:23994408..24258629hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38264222
hg19264222
hg18264222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8075n54
Supporting Variantsnssv954446
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)nsv588804
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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