A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22074



Internal ID15840279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28378375..28425368hg38UCSC Ensembl
Outerchr16:28378312..28425412hg38UCSC Ensembl
Innerchr16:28389696..28436689hg19UCSC Ensembl
Outerchr16:28389633..28436733hg19UCSC Ensembl
Innerchr16:28297197..28344190hg18UCSC Ensembl
Outerchr16:28297134..28344234hg18UCSC Ensembl
Innerchr16:28297197..28344190hg17UCSC Ensembl
Outerchr16:28297134..28344234hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3847101
hg1947101
hg1847101
hg1747101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9414
Supporting Variants
SamplesNA18975
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2
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)nssv22074
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer