A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7968



Internal ID15845880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131596032..131999959hg38UCSC Ensembl
Outerchr6:131917172..132321099hg19UCSC Ensembl
Outerchr6:131958865..132362792hg18UCSC Ensembl
Outerchr6:131958865..132362792hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38403928
hg19403928
hg18403928
hg17403928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15004, nssv14660, nssv17610, nssv13571
SamplesNA10839, NA12872, NA19221, NA18853
Known GenesCTAGE9, CTGF, ENPP1, ENPP3, MED23, 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)nsv7968
Frequency
Sample Size31
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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