A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16514



Internal ID15834508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32471773..32473617hg38UCSC Ensembl
Outerchr6:32470802..32474259hg38UCSC Ensembl
Innerchr6:32439550..32441394hg19UCSC Ensembl
Outerchr6:32438579..32442036hg19UCSC Ensembl
Innerchr6:32547528..32549372hg18UCSC Ensembl
Outerchr6:32546557..32550014hg18UCSC Ensembl
Innerchr6:32547528..32549372hg17UCSC Ensembl
Outerchr6:32546557..32550014hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg383458
hg193458
hg183458
hg173458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18517
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)nssv16514
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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