A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9610



Internal ID15847522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12417587..12424528hg38UCSC Ensembl
Outerchr18:12417586..12424527hg19UCSC Ensembl
Outerchr18:12407586..12414527hg18UCSC Ensembl
Outerchr18:12407586..12414527hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg386942
hg196942
hg186942
hg176942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28375
SamplesNA19221
Known GenesSLMO1
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)nsv9610
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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