A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16650



Internal ID15844242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31355273..31358213hg38UCSC Ensembl
Outerchr6:31354936..31360403hg38UCSC Ensembl
Innerchr6:31323050..31325990hg19UCSC Ensembl
Outerchr6:31322713..31328180hg19UCSC Ensembl
Innerchr6:31431029..31433969hg18UCSC Ensembl
Outerchr6:31430692..31436159hg18UCSC Ensembl
Innerchr6:31431029..31433969hg17UCSC Ensembl
Outerchr6:31430692..31436159hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg385468
hg195468
hg185468
hg175468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10818
Supporting Variants
SamplesNA19221
Known GenesHLA-B, MIR6891
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)nssv16650
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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