A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15518



Internal ID15830709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32663409..32665380hg38UCSC Ensembl
Outerchr6:32662736..32665876hg38UCSC Ensembl
Innerchr6:32631186..32633157hg19UCSC Ensembl
Outerchr6:32630513..32633653hg19UCSC Ensembl
Innerchr6:32739164..32741135hg18UCSC Ensembl
Outerchr6:32738491..32741631hg18UCSC Ensembl
Innerchr6:32739164..32741135hg17UCSC Ensembl
Outerchr6:32738491..32741631hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg383141
hg193141
hg183141
hg173141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA12155
Known GenesHLA-DQB1
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)nssv15518
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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