A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9612



Internal ID15847524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14182153..14191252hg38UCSC Ensembl
Outerchr18:14182152..14191251hg19UCSC Ensembl
Outerchr18:14172152..14181251hg18UCSC Ensembl
Outerchr18:14172152..14181251hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg389100
hg199100
hg189100
hg179100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23847, nssv24918, nssv24368, nssv26131
SamplesNA12155, NA10863, NA18537, NA18564
Known GenesANKRD20A5P
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)nsv9612
Frequency
Sample Size31
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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