A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27238



Internal ID15844343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15644750..15734249hg38UCSC Ensembl
Outerchr22:15644397..15734585hg38UCSC Ensembl
Innerchr22:16243714..16333213hg19UCSC Ensembl
Outerchr22:16243378..16333566hg19UCSC Ensembl
Innerchr22:14623714..14713213hg18UCSC Ensembl
Outerchr22:14623378..14713566hg18UCSC Ensembl
Innerchr22:14623714..14707767hg17UCSC Ensembl
Outerchr22:14623378..14708120hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3890189
hg1990189
hg1890189
hg1784743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9866
Supporting Variants
SamplesNA19240
Known GenesPOTEH
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)nssv27238
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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