A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21016



Internal ID15835511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19956445hg38UCSC Ensembl
Outerchr14:19230949..19957242hg38UCSC Ensembl
Innerchr14:19781728..20424604hg19UCSC Ensembl
Outerchr14:19780824..20425401hg19UCSC Ensembl
Innerchr14:18851728..19494444hg18UCSC Ensembl
Outerchr14:18850824..19495241hg18UCSC Ensembl
Innerchr14:18851728..19494444hg17UCSC Ensembl
Outerchr14:18850824..19495241hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38726294
hg19644578
hg18644418
hg17644418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18552
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, 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)nssv21016
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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