A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22232



Internal ID15480860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32847230..33012253hg38UCSC Ensembl
Outerchr16:32846522..33023674hg38UCSC Ensembl
Innerchr16:32858551..33023574hg19UCSC Ensembl
Outerchr16:32857843..33034995hg19UCSC Ensembl
Innerchr16:32766052..32931075hg18UCSC Ensembl
Outerchr16:32765344..32942496hg18UCSC Ensembl
Innerchr16:32766052..32931075hg17UCSC Ensembl
Outerchr16:32765344..32942496hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38177153
hg19177153
hg18177153
hg17177153
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA07029
Known GenesSLC6A10P
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)nssv22232
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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