A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14947



Internal ID15830229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170681357..170734266hg38UCSC Ensembl
Outerchr6:170679672..170734719hg38UCSC Ensembl
Innerchr6:170990445..171043354hg19UCSC Ensembl
Outerchr6:170988760..171043807hg19UCSC Ensembl
Innerchr6:170832370..170885279hg18UCSC Ensembl
Outerchr6:170830685..170885732hg18UCSC Ensembl
Innerchr6:170908077..170960986hg17UCSC Ensembl
Outerchr6:170906392..170961439hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3855048
hg1955048
hg1855048
hg1755048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8022
Supporting Variants
SamplesNA11830
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)nssv14947
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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