A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16197



Internal ID15841964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32516141..32518327hg38UCSC Ensembl
Outerchr6:32515648..32518816hg38UCSC Ensembl
Innerchr6:32483918..32486104hg19UCSC Ensembl
Outerchr6:32483425..32486593hg19UCSC Ensembl
Innerchr6:32591896..32594082hg18UCSC Ensembl
Outerchr6:32591403..32594571hg18UCSC Ensembl
Innerchr6:32591896..32594082hg17UCSC Ensembl
Outerchr6:32591403..32594571hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg383169
hg193169
hg183169
hg173169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19132
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)nssv16197
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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