A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19469



Internal ID15843186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47480643..47481159hg38UCSC Ensembl
Outerchr10:47480298..47481608hg38UCSC Ensembl
Innerchr10:48258203..48258719hg19UCSC Ensembl
Outerchr10:48257754..48259064hg19UCSC Ensembl
Innerchr10:47878209..47878725hg18UCSC Ensembl
Outerchr10:47877760..47879070hg18UCSC Ensembl
Innerchr10:47878209..47878725hg17UCSC Ensembl
Outerchr10:47877760..47879070hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg381311
hg191311
hg181311
hg171311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19173
Known GenesANXA8
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)nssv19469
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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