A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8835



Internal ID15846747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223888600..223908764hg38UCSC Ensembl
Outerchr1:224076302..224096466hg19UCSC Ensembl
Outerchr1:222142925..222163089hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv23688, nssv22090
SamplesNA18502, NA12802
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)nsv8835
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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