A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9320



Internal ID15500546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:427245..432556hg38UCSC Ensembl
Outerchr16:477245..482556hg19UCSC Ensembl
Outerchr16:417246..422557hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv26124, nssv22460
SamplesNA18853, NA19132
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)nsv9320
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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