A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14230



Internal ID15831689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170681357..170734719hg38UCSC Ensembl
Outerchr6:170679672..170734826hg38UCSC Ensembl
Innerchr6:170990445..171043807hg19UCSC Ensembl
Outerchr6:170988760..171043914hg19UCSC Ensembl
Innerchr6:170832370..170885732hg18UCSC Ensembl
Outerchr6:170830685..170885839hg18UCSC Ensembl
Innerchr6:170908077..170961439hg17UCSC Ensembl
Outerchr6:170906392..170961546hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3855155
hg1955155
hg1855155
hg1755155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8022
Supporting Variants
SamplesNA12802
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)nssv14230
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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