A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20694



Internal ID15840388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19735825hg38UCSC Ensembl
Outerchr14:19230949..19742473hg38UCSC Ensembl
Innerchr14:19802572..20203984hg19UCSC Ensembl
Outerchr14:19796159..20210632hg19UCSC Ensembl
Innerchr14:18872572..19273824hg18UCSC Ensembl
Outerchr14:18866159..19280472hg18UCSC Ensembl
Innerchr14:18872572..19273824hg17UCSC Ensembl
Outerchr14:18866159..19280472hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38511525
hg19414474
hg18414314
hg17414314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18975
Known GenesBMS1P17, BMS1P18, OR11H2, POTEM
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)nssv20694
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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