A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23448



Internal ID15494466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30223463..30225221hg38UCSC Ensembl
Outerchr16:30223256..30225584hg38UCSC Ensembl
Innerchr16:30234784..30236542hg19UCSC Ensembl
Outerchr16:30234577..30236905hg19UCSC Ensembl
Innerchr16:30142285..30144043hg18UCSC Ensembl
Outerchr16:30142078..30144406hg18UCSC Ensembl
Innerchr16:30142285..30144043hg17UCSC Ensembl
Outerchr16:30142078..30144406hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
hg172329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9432
Supporting Variants
SamplesNA19007
Known GenesLOC613037
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)nssv23448
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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