A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20281



Internal ID15844650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6613617..6622040hg38UCSC Ensembl
Outerchr10:6610263..6622666hg38UCSC Ensembl
Innerchr10:6655579..6664002hg19UCSC Ensembl
Outerchr10:6652225..6664628hg19UCSC Ensembl
Innerchr10:6695585..6704008hg18UCSC Ensembl
Outerchr10:6692231..6704634hg18UCSC Ensembl
Innerchr10:6695585..6704008hg17UCSC Ensembl
Outerchr10:6692231..6704634hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3812404
hg1912404
hg1812404
hg1712404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8601
Supporting Variants
SamplesNA19240
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)nssv20281
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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