A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22090



Internal ID15831986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223901214..223904839hg38UCSC Ensembl
Outerchr1:223888600..223908764hg38UCSC Ensembl
Innerchr1:224088916..224092541hg19UCSC Ensembl
Outerchr1:224076302..224096466hg19UCSC Ensembl
Innerchr1:222155539..222159164hg18UCSC Ensembl
Outerchr1:222142925..222163089hg18UCSC Ensembl
Innerchr1:220395651..220399276hg17UCSC Ensembl
Outerchr1:220383037..220403201hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3820165
hg1920165
hg1820165
hg1720165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8835
Supporting Variants
SamplesNA12802
Known Genes
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)nssv22090
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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