A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10204



Internal ID15845167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:182745041..182775023hg38UCSC Ensembl
Outerchr2:183609768..183639750hg19UCSC Ensembl
Outerchr2:183318013..183347995hg18UCSC Ensembl
Outerchr2:183435274..183465256hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3829983
hg1929983
hg1829983
hg1729983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27509
SamplesNA12802
Known GenesDNAJC10
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)nsv10204
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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