A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27190



Internal ID15832734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60005190..60031945hg38UCSC Ensembl
Outerchr17:60004069..60033180hg38UCSC Ensembl
Innerchr17:58082551..58109306hg19UCSC Ensembl
Outerchr17:58081430..58110541hg19UCSC Ensembl
Innerchr17:55437333..55464088hg18UCSC Ensembl
Outerchr17:55436212..55465323hg18UCSC Ensembl
Innerchr17:55437333..55464088hg17UCSC Ensembl
Outerchr17:55436212..55465323hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3829112
hg1929112
hg1829112
hg1729112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9578
Supporting Variants
SamplesNA18502
Known GenesTBC1D3P1-DHX40P1
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)nssv27190
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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