A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18295



Internal ID15840533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:42831895..42834612hg38UCSC Ensembl
Outerchr10:42831664..42835938hg38UCSC Ensembl
Innerchr10:43327343..43330060hg19UCSC Ensembl
Outerchr10:43327112..43331386hg19UCSC Ensembl
Innerchr10:42647349..42650066hg18UCSC Ensembl
Outerchr10:42647118..42651392hg18UCSC Ensembl
Innerchr10:42647349..42650066hg17UCSC Ensembl
Outerchr10:42647118..42651392hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg384275
hg194275
hg184275
hg174275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8627
Supporting Variants
SamplesNA18980
Known GenesBMS1
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)nssv18295
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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