A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18506



Internal ID15841453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47479813..47481159hg38UCSC Ensembl
Outerchr10:47479645..47481608hg38UCSC Ensembl
Innerchr10:48258203..48259549hg19UCSC Ensembl
Outerchr10:48257754..48259717hg19UCSC Ensembl
Innerchr10:47878209..47879555hg18UCSC Ensembl
Outerchr10:47877760..47879723hg18UCSC Ensembl
Innerchr10:47878209..47879555hg17UCSC Ensembl
Outerchr10:47877760..47879723hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg381964
hg191964
hg181964
hg171964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19007
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)nssv18506
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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