A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23814



Internal ID15843139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28406347..28414447hg38UCSC Ensembl
Outerchr16:28405843..28414560hg38UCSC Ensembl
Innerchr16:28417668..28425768hg19UCSC Ensembl
Outerchr16:28417164..28425881hg19UCSC Ensembl
Innerchr16:28325169..28333269hg18UCSC Ensembl
Outerchr16:28324665..28333382hg18UCSC Ensembl
Innerchr16:28325169..28333269hg17UCSC Ensembl
Outerchr16:28324665..28333382hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388718
hg198718
hg188718
hg178718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9414
Supporting Variants
SamplesNA19173
Known GenesEIF3C
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)nssv23814
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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