A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10747



Internal ID15845710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:123285340..123289200hg38UCSC Ensembl
Outerchr5:122621034..122624894hg19UCSC Ensembl
Outerchr5:122648933..122652793hg18UCSC Ensembl
Outerchr5:122648933..122652793hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383861
hg193861
hg183861
hg173861
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15313, nssv12910, nssv13532, nssv13704, nssv14799, nssv14611, nssv14136, nssv14193, nssv13466, nssv14648, nssv13687, nssv12641, nssv15567, nssv15531
SamplesNA11830, NA07029, NA18504, NA12155, NA12802, NA18860, NA07048, NA18975, NA19007, NA10863, NA12872, NA19132, NA19240, NA12740
Known Genes
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)nsv10747
Frequency
Sample Size31
Observed Gain10
Observed Loss4
Observed Complex0
Frequencyn/a


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