A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10647



Internal ID15845610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:466547..471931hg38UCSC Ensembl
Outerchr5:466662..472046hg19UCSC Ensembl
Outerchr5:519662..525046hg18UCSC Ensembl
Outerchr5:519662..525046hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385385
hg195385
hg185385
hg175385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13074, nssv12806, nssv13144, nssv14903, nssv12617, nssv14301, nssv13681, nssv13293, nssv12645, nssv13038, nssv12010, nssv12516, nssv12980, nssv11929, nssv12592, nssv12727, nssv13135, nssv15180, nssv12131
SamplesNA11830, NA18980, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA18564, NA19240, NA18972
Known GenesEXOC3, PP7080
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)nsv10647
Frequency
Sample Size31
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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