A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14154



Internal ID15840210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32636438..32687346hg38UCSC Ensembl
Outerchr6:32635960..32687666hg38UCSC Ensembl
Innerchr6:32604215..32655123hg19UCSC Ensembl
Outerchr6:32603737..32655443hg19UCSC Ensembl
Innerchr6:32712193..32763101hg18UCSC Ensembl
Outerchr6:32711715..32763421hg18UCSC Ensembl
Innerchr6:32712193..32763101hg17UCSC Ensembl
Outerchr6:32711715..32763421hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3851707
hg1951707
hg1851707
hg1751707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18975
Known GenesHLA-DQA1, HLA-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)nssv14154
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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