A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9601



Internal ID15500827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3987018..3991223hg38UCSC Ensembl
Outerchr18:3987018..3991223hg19UCSC Ensembl
Outerchr18:3977018..3981223hg18UCSC Ensembl
Outerchr18:3977018..3981223hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384206
hg194206
hg184206
hg174206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27214
SamplesNA18972
Known GenesDLGAP1, DLGAP1-AS4
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)nsv9601
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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