A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13510



Internal ID15831659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32637203..32637730hg38UCSC Ensembl
Outerchr6:32636727..32638342hg38UCSC Ensembl
Innerchr6:32604980..32605507hg19UCSC Ensembl
Outerchr6:32604504..32606119hg19UCSC Ensembl
Innerchr6:32712958..32713485hg18UCSC Ensembl
Outerchr6:32712482..32714097hg18UCSC Ensembl
Innerchr6:32712958..32713485hg17UCSC Ensembl
Outerchr6:32712482..32714097hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381616
hg191616
hg181616
hg171616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA12802
Known GenesHLA-DQA1
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)nssv13510
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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