A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25034



Internal ID15827902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15792710..15882521hg38UCSC Ensembl
Outerchr22:15792218..15882972hg38UCSC Ensembl
Innerchr22:16095442..16185253hg19UCSC Ensembl
Outerchr22:16094991..16185745hg19UCSC Ensembl
Innerchr22:14475442..14565253hg18UCSC Ensembl
Outerchr22:14474991..14565745hg18UCSC Ensembl
Innerchr22:14475442..14565253hg17UCSC Ensembl
Outerchr22:14474991..14565745hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3890755
hg1990755
hg1890755
hg1790755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9866
Supporting Variants
SamplesNA07048
Known GenesBMS1P17, BMS1P18
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)nssv25034
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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