A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17610



Internal ID15497474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:131708373..131891033hg38UCSC Ensembl
Outerchr6:131685389..131999959hg38UCSC Ensembl
Innerchr6:132029513..132212173hg19UCSC Ensembl
Outerchr6:132006529..132321099hg19UCSC Ensembl
Innerchr6:132071206..132253866hg18UCSC Ensembl
Outerchr6:132048222..132362792hg18UCSC Ensembl
Innerchr6:132071206..132253866hg17UCSC Ensembl
Outerchr6:132048222..132362792hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38314571
hg19314571
hg18314571
hg17314571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7968
Supporting Variants
SamplesNA19221
Known GenesCTAGE9, CTGF, ENPP1, 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)nssv17610
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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