A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22460



Internal ID15490975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:428268..430488hg38UCSC Ensembl
Outerchr16:427245..432556hg38UCSC Ensembl
Innerchr16:478268..480488hg19UCSC Ensembl
Outerchr16:477245..482556hg19UCSC Ensembl
Innerchr16:418269..420489hg18UCSC Ensembl
Outerchr16:417246..422557hg18UCSC Ensembl
Innerchr16:418269..420489hg17UCSC Ensembl
Outerchr16:417246..422557hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385312
hg195312
hg185312
hg175312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9320
Supporting Variants
SamplesNA18853
Known GenesRAB11FIP3
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)nssv22460
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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