A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23875



Internal ID15829816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28406347..28415368hg38UCSC Ensembl
Outerchr16:28405843..28418086hg38UCSC Ensembl
Innerchr16:28417668..28426689hg19UCSC Ensembl
Outerchr16:28417164..28429407hg19UCSC Ensembl
Innerchr16:28325169..28334190hg18UCSC Ensembl
Outerchr16:28324665..28336908hg18UCSC Ensembl
Innerchr16:28325169..28334190hg17UCSC Ensembl
Outerchr16:28324665..28336908hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3812244
hg1912244
hg1812244
hg1712244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9414
Supporting Variants
SamplesNA11830
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)nssv23875
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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