A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20090



Internal ID15837906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196919467..196949458hg38UCSC Ensembl
Outerchr1:196918657..196949854hg38UCSC Ensembl
Innerchr1:196888597..196918588hg19UCSC Ensembl
Outerchr1:196887787..196918984hg19UCSC Ensembl
Innerchr1:195155220..195185211hg18UCSC Ensembl
Outerchr1:195154410..195185607hg18UCSC Ensembl
Innerchr1:193620254..193650245hg17UCSC Ensembl
Outerchr1:193619444..193650641hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3831198
hg1931198
hg1831198
hg1731198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18853
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)nssv20090
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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