A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15004



Internal ID15481961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:131685389..131713631hg38UCSC Ensembl
Outerchr6:131596032..131714340hg38UCSC Ensembl
Innerchr6:132006529..132034771hg19UCSC Ensembl
Outerchr6:131917172..132035480hg19UCSC Ensembl
Innerchr6:132048222..132076464hg18UCSC Ensembl
Outerchr6:131958865..132077173hg18UCSC Ensembl
Innerchr6:132048222..132076464hg17UCSC Ensembl
Outerchr6:131958865..132077173hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38118309
hg19118309
hg18118309
hg17118309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7968
Supporting Variants
SamplesNA10839
Known GenesCTAGE9, 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)nssv15004
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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