A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18985



Internal ID15840879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48010002..48019379hg38UCSC Ensembl
Outerchr10:48008423..48019543hg38UCSC Ensembl
Innerchr10:49218027..49227394hg19UCSC Ensembl
Outerchr10:49216447..49227558hg19UCSC Ensembl
Innerchr10:48888033..48897400hg18UCSC Ensembl
Outerchr10:48886453..48897564hg18UCSC Ensembl
Innerchr10:48888033..48897400hg17UCSC Ensembl
Outerchr10:48886453..48897564hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3811121
hg1911112
hg1811112
hg1711112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18980
Known GenesCTGLF12P
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)nssv18985
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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