A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10230



Internal ID15845193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241739481..241755843hg38UCSC Ensembl
Outerchr2:242678896..242695258hg19UCSC Ensembl
Outerchr2:242327569..242343931hg18UCSC Ensembl
Outerchr2:242398886..242415248hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3816363
hg1916363
hg1816363
hg1716363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11864
SamplesNA18517
Known GenesD2HGDH
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)nsv10230
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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