A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28123



Internal ID15497250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:85918387..85919119hg38UCSC Ensembl
Outerchr16:85917850..85919906hg38UCSC Ensembl
Innerchr16:85951993..85952725hg19UCSC Ensembl
Outerchr16:85951456..85953512hg19UCSC Ensembl
Innerchr16:84509494..84510226hg18UCSC Ensembl
Outerchr16:84508957..84511013hg18UCSC Ensembl
Innerchr16:84509494..84510226hg17UCSC Ensembl
Outerchr16:84508957..84511013hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg382057
hg192057
hg182057
hg172057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9466
Supporting Variants
SamplesNA19221
Known GenesIRF8, MIR6774
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)nssv28123
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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