A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22750



Internal ID15832767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196919467..196947566hg38UCSC Ensembl
Outerchr1:196918657..196948073hg38UCSC Ensembl
Innerchr1:196888597..196916696hg19UCSC Ensembl
Outerchr1:196887787..196917203hg19UCSC Ensembl
Innerchr1:195155220..195183319hg18UCSC Ensembl
Outerchr1:195154410..195183826hg18UCSC Ensembl
Innerchr1:193620254..193648353hg17UCSC Ensembl
Outerchr1:193619444..193648860hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3829417
hg1929417
hg1829417
hg1729417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18502
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)nssv22750
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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