A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10141



Internal ID15845104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126365061..126366893hg38UCSC Ensembl
Outerchr2:127122638..127124470hg19UCSC Ensembl
Outerchr2:126839108..126840940hg18UCSC Ensembl
Outerchr2:126838868..126840700hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381833
hg191833
hg181833
hg171833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28815
SamplesNA18564
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)nsv10141
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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