A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23393



Internal ID15841828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196911508..196957882hg38UCSC Ensembl
Outerchr1:196911005..196958768hg38UCSC Ensembl
Innerchr1:196880638..196927012hg19UCSC Ensembl
Outerchr1:196880135..196927898hg19UCSC Ensembl
Innerchr1:195147261..195193635hg18UCSC Ensembl
Outerchr1:195146758..195194521hg18UCSC Ensembl
Innerchr1:193612295..193658669hg17UCSC Ensembl
Outerchr1:193611792..193659555hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3847764
hg1947764
hg1847764
hg1747764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA19132
Known GenesCFHR2, CFHR4
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)nssv23393
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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