A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25173



Internal ID15835797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196789897..196917587hg38UCSC Ensembl
Outerchr1:196788690..196918185hg38UCSC Ensembl
Innerchr1:196759027..196886717hg19UCSC Ensembl
Outerchr1:196757820..196887315hg19UCSC Ensembl
Innerchr1:195025650..195153340hg18UCSC Ensembl
Outerchr1:195024443..195153938hg18UCSC Ensembl
Innerchr1:193490684..193618374hg17UCSC Ensembl
Outerchr1:193489477..193618972hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38129496
hg19129496
hg18129496
hg17129496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18563
Known GenesCFHR1, CFHR3, 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)nssv25173
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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