A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27970



Internal ID15834436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24274679..24277113hg38UCSC Ensembl
Outerchr22:24274405..24278887hg38UCSC Ensembl
Innerchr22:24670647..24673081hg19UCSC Ensembl
Outerchr22:24670373..24674855hg19UCSC Ensembl
Innerchr22:23000647..23003081hg18UCSC Ensembl
Outerchr22:23000373..23004855hg18UCSC Ensembl
Innerchr22:22995201..22997635hg17UCSC Ensembl
Outerchr22:22994927..22999409hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg384483
hg194483
hg184483
hg174483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9883
Supporting Variants
SamplesNA18517
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)nssv27970
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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