A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14358



Internal ID15836382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31269792..31270175hg38UCSC Ensembl
Outerchr6:31269201..31270843hg38UCSC Ensembl
Innerchr6:31237569..31237952hg19UCSC Ensembl
Outerchr6:31236978..31238620hg19UCSC Ensembl
Innerchr6:31345548..31345931hg18UCSC Ensembl
Outerchr6:31344957..31346599hg18UCSC Ensembl
Innerchr6:31345548..31345931hg17UCSC Ensembl
Outerchr6:31344957..31346599hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381643
hg191643
hg181643
hg171643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10814
Supporting Variants
SamplesNA18564
Known GenesHLA-C
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)nssv14358
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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