A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13271



Internal ID15832368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32661679..32666312hg38UCSC Ensembl
Outerchr6:32661338..32666783hg38UCSC Ensembl
Innerchr6:32629456..32634089hg19UCSC Ensembl
Outerchr6:32629115..32634560hg19UCSC Ensembl
Innerchr6:32737434..32742067hg18UCSC Ensembl
Outerchr6:32737093..32742538hg18UCSC Ensembl
Innerchr6:32737434..32742067hg17UCSC Ensembl
Outerchr6:32737093..32742538hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg385446
hg195446
hg185446
hg175446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA12872
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)nssv13271
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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