A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25341



Internal ID15829527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24274679..24278887hg38UCSC Ensembl
Outerchr22:24274405..24279904hg38UCSC Ensembl
Innerchr22:24670647..24674855hg19UCSC Ensembl
Outerchr22:24670373..24675872hg19UCSC Ensembl
Innerchr22:23000647..23004855hg18UCSC Ensembl
Outerchr22:23000373..23005872hg18UCSC Ensembl
Innerchr22:22995201..22999409hg17UCSC Ensembl
Outerchr22:22994927..23000426hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg385500
hg195500
hg185500
hg175500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9883
Supporting Variants
SamplesNA10863
Known GenesSPECC1L, SPECC1L-ADORA2A
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv25341
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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