A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13450



Internal ID15831655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32583204..32583936hg38UCSC Ensembl
Outerchr6:32582861..32584356hg38UCSC Ensembl
Innerchr6:32550981..32551713hg19UCSC Ensembl
Outerchr6:32550638..32552133hg19UCSC Ensembl
Innerchr6:32658959..32659691hg18UCSC Ensembl
Outerchr6:32658616..32660111hg18UCSC Ensembl
Innerchr6:32658959..32659691hg17UCSC Ensembl
Outerchr6:32658616..32660111hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381496
hg191496
hg181496
hg171496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA12802
Known GenesHLA-DRB1
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)nssv13450
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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