A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588803



Internal ID16376212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25532653hg38UCSC Ensembl
Innerchr22:25664408..25928620hg19UCSC Ensembl
Innerchr22:23994408..24258620hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38264213
hg19264213
hg18264213
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv954445, nssv1151709
Samples1780862505_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)nsv588803
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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