A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14673



Internal ID15828119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32487748..32512278hg38UCSC Ensembl
Outerchr6:32484475..32512568hg38UCSC Ensembl
Innerchr6:32455525..32480055hg19UCSC Ensembl
Outerchr6:32452252..32480345hg19UCSC Ensembl
Innerchr6:32563503..32588033hg18UCSC Ensembl
Outerchr6:32560230..32588323hg18UCSC Ensembl
Innerchr6:32563503..32588033hg17UCSC Ensembl
Outerchr6:32560230..32588323hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3828094
hg1928094
hg1828094
hg1728094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA07048
Known Genes
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)nssv14673
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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