A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28062



Internal ID15838076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15574914..15882972hg38UCSC Ensembl
Outerchr22:15574350..15883341hg38UCSC Ensembl
Innerchr22:16094991..16403049hg19UCSC Ensembl
Outerchr22:16094622..16403613hg19UCSC Ensembl
Innerchr22:14474991..14783049hg18UCSC Ensembl
Outerchr22:14474622..14783613hg18UCSC Ensembl
Innerchr22:14474991..14777603hg17UCSC Ensembl
Outerchr22:14474622..14778167hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38308992
hg19308992
hg18308992
hg17303546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9866
Supporting Variants
SamplesNA18860
Known GenesBMS1P17, BMS1P18, POTEH
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)nssv28062
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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