A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10792



Internal ID15845755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181058288..181060022hg38UCSC Ensembl
Outerchr5:180485288..180487022hg19UCSC Ensembl
Outerchr5:180417894..180419628hg18UCSC Ensembl
Outerchr5:180417894..180419628hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381735
hg191735
hg181735
hg171735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13862, nssv14523, nssv14178, nssv16154, nssv15009
SamplesNA07029, NA07048, NA18517, NA18564, NA12740
Known GenesBTNL9
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)nsv10792
Frequency
Sample Size31
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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