A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588801



Internal ID16376210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25518626hg38UCSC Ensembl
Innerchr22:25664408..25914593hg19UCSC Ensembl
Innerchr22:23994408..24244593hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38250186
hg19250186
hg18250186
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv954436, nssv954428, nssv954430, nssv954438, nssv954433, nssv954435, nssv954432, nssv954434, nssv954442, nssv954440, nssv954439, nssv954441, nssv954437, nssv954429, nssv954443, nssv954431
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)nsv588801
Frequency
Sample Size17421
Observed Gain6
Observed Loss10
Observed Complex0
Frequencyn/a


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