A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15569



Internal ID15843387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170681357..170681384hg38UCSC Ensembl
Outerchr6:170679672..170691238hg38UCSC Ensembl
Innerchr6:170990445..170990472hg19UCSC Ensembl
Outerchr6:170988760..171000326hg19UCSC Ensembl
Innerchr6:170832370..170832397hg18UCSC Ensembl
Outerchr6:170830685..170842251hg18UCSC Ensembl
Innerchr6:170908077..170908104hg17UCSC Ensembl
Outerchr6:170906392..170917958hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3811567
hg1911567
hg1811567
hg1711567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8022
Supporting Variants
SamplesNA19173
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)nssv15569
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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