A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16604



Internal ID15833958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32518327..32518816hg38UCSC Ensembl
Outerchr6:32517424..32519194hg38UCSC Ensembl
Innerchr6:32486104..32486593hg19UCSC Ensembl
Outerchr6:32485201..32486971hg19UCSC Ensembl
Innerchr6:32594082..32594571hg18UCSC Ensembl
Outerchr6:32593179..32594949hg18UCSC Ensembl
Innerchr6:32594082..32594571hg17UCSC Ensembl
Outerchr6:32593179..32594949hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381771
hg191771
hg181771
hg171771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18517
Known GenesHLA-DRB5
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)nssv16604
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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