A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20409



Internal ID15484578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161510297..161676213hg38UCSC Ensembl
Outerchr1:161509541..161676760hg38UCSC Ensembl
Innerchr1:161480087..161646003hg19UCSC Ensembl
Outerchr1:161479331..161646550hg19UCSC Ensembl
Innerchr1:159746711..159912627hg18UCSC Ensembl
Outerchr1:159745955..159913174hg18UCSC Ensembl
Innerchr1:158293142..158377670hg17UCSC Ensembl
Outerchr1:158292386..158378217hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38167220
hg19167220
hg18167220
hg1785832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8502
Supporting Variants
SamplesNA12740
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)nssv20409
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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