A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23309



Internal ID15843279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10106102..10107103hg38UCSC Ensembl
Outerchr16:10105581..10107613hg38UCSC Ensembl
Innerchr16:10199959..10200960hg19UCSC Ensembl
Outerchr16:10199438..10201470hg19UCSC Ensembl
Innerchr16:10107460..10108461hg18UCSC Ensembl
Outerchr16:10106939..10108971hg18UCSC Ensembl
Innerchr16:10107460..10108461hg17UCSC Ensembl
Outerchr16:10106939..10108971hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg382033
hg192033
hg182033
hg172033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9345
Supporting Variants
SamplesNA19173
Known GenesGRIN2A
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)nssv23309
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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