A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10699



Internal ID15845662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56369280..56374870hg38UCSC Ensembl
Outerchr5:55665107..55670697hg19UCSC Ensembl
Outerchr5:55700864..55706454hg18UCSC Ensembl
Outerchr5:55700864..55706454hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385591
hg195591
hg185591
hg175591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14901, nssv13594
SamplesNA18860, NA10839
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)nsv10699
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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