A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18874



Internal ID15828323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46791537..46794076hg38UCSC Ensembl
Outerchr10:46791281..46794398hg38UCSC Ensembl
Innerchr10:48190564..48193095hg19UCSC Ensembl
Outerchr10:48190297..48193413hg19UCSC Ensembl
Innerchr10:47810570..47813101hg18UCSC Ensembl
Outerchr10:47810303..47813419hg18UCSC Ensembl
Innerchr10:47810570..47813101hg17UCSC Ensembl
Outerchr10:47810303..47813419hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383118
hg193117
hg183117
hg173117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA10839
Known GenesBMS1P2, BMS1P6
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)nssv18874
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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