A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27869



Internal ID15843553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28406347..28413793hg38UCSC Ensembl
Outerchr16:28405843..28413817hg38UCSC Ensembl
Innerchr16:28417668..28425114hg19UCSC Ensembl
Outerchr16:28417164..28425138hg19UCSC Ensembl
Innerchr16:28325169..28332615hg18UCSC Ensembl
Outerchr16:28324665..28332639hg18UCSC Ensembl
Innerchr16:28325169..28332615hg17UCSC Ensembl
Outerchr16:28324665..28332639hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387975
hg197975
hg187975
hg177975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9414
Supporting Variants
SamplesNA19221
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)nssv27869
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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