A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27509



Internal ID15831746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182751092..182768735hg38UCSC Ensembl
Outerchr2:182745041..182775023hg38UCSC Ensembl
Innerchr2:183615819..183633462hg19UCSC Ensembl
Outerchr2:183609768..183639750hg19UCSC Ensembl
Innerchr2:183324064..183341707hg18UCSC Ensembl
Outerchr2:183318013..183347995hg18UCSC Ensembl
Innerchr2:183441325..183458968hg17UCSC 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 StatusS
Merged Variantsnsv10204
Supporting Variants
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)nssv27509
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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