A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14614



Internal ID15828278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32479666..32480326hg38UCSC Ensembl
Outerchr6:32474935..32480715hg38UCSC Ensembl
Innerchr6:32447443..32448103hg19UCSC Ensembl
Outerchr6:32442712..32448492hg19UCSC Ensembl
Innerchr6:32555421..32556081hg18UCSC Ensembl
Outerchr6:32550690..32556470hg18UCSC Ensembl
Innerchr6:32555421..32556081hg17UCSC Ensembl
Outerchr6:32550690..32556470hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg385781
hg195781
hg185781
hg175781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA10839
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)nssv14614
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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