A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23998



Internal ID15837917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196919907..196945223hg38UCSC Ensembl
Outerchr1:196919467..196947566hg38UCSC Ensembl
Innerchr1:196889037..196914353hg19UCSC Ensembl
Outerchr1:196888597..196916696hg19UCSC Ensembl
Innerchr1:195155660..195180976hg18UCSC Ensembl
Outerchr1:195155220..195183319hg18UCSC Ensembl
Innerchr1:193620694..193646010hg17UCSC Ensembl
Outerchr1:193620254..193648353hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3828100
hg1928100
hg1828100
hg1728100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18860
Known GenesCFHR2
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)nssv23998
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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