A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13571



Internal ID15485466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:131708373..131713631hg38UCSC Ensembl
Outerchr6:131685389..131714340hg38UCSC Ensembl
Innerchr6:132029513..132034771hg19UCSC Ensembl
Outerchr6:132006529..132035480hg19UCSC Ensembl
Innerchr6:132071206..132076464hg18UCSC Ensembl
Outerchr6:132048222..132077173hg18UCSC Ensembl
Innerchr6:132071206..132076464hg17UCSC Ensembl
Outerchr6:132048222..132077173hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3828952
hg1928952
hg1828952
hg1728952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7968
Supporting Variants
SamplesNA12872
Known GenesCTAGE9, ENPP3, OR2A4
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)nssv13571
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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