A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16123



Internal ID15833757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32556855..32557959hg38UCSC Ensembl
Outerchr6:32556334..32558310hg38UCSC Ensembl
Innerchr6:32524632..32525736hg19UCSC Ensembl
Outerchr6:32524111..32526087hg19UCSC Ensembl
Innerchr6:32632610..32633714hg18UCSC Ensembl
Outerchr6:32632089..32634065hg18UCSC Ensembl
Innerchr6:32632610..32633714hg17UCSC Ensembl
Outerchr6:32632089..32634065hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381977
hg191977
hg181977
hg171977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18504
Known GenesHLA-DRB6
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)nssv16123
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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