A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24592



Internal ID15844859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196919467..196948073hg38UCSC Ensembl
Outerchr1:196918657..196948995hg38UCSC Ensembl
Innerchr1:196888597..196917203hg19UCSC Ensembl
Outerchr1:196887787..196918125hg19UCSC Ensembl
Innerchr1:195155220..195183826hg18UCSC Ensembl
Outerchr1:195154410..195184748hg18UCSC Ensembl
Innerchr1:193620254..193648860hg17UCSC Ensembl
Outerchr1:193619444..193649782hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3830339
hg1930339
hg1830339
hg1730339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA19240
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)nssv24592
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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