A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13129



Internal ID15837002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32578291..32578705hg38UCSC Ensembl
Outerchr6:32577924..32579225hg38UCSC Ensembl
Innerchr6:32546068..32546482hg19UCSC Ensembl
Outerchr6:32545701..32547002hg19UCSC Ensembl
Innerchr6:32654046..32654460hg18UCSC Ensembl
Outerchr6:32653679..32654980hg18UCSC Ensembl
Innerchr6:32654046..32654460hg17UCSC Ensembl
Outerchr6:32653679..32654980hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381302
hg191302
hg181302
hg171302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18572
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)nssv13129
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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