A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20796



Internal ID15829405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19723662hg38UCSC Ensembl
Outerchr14:19230949..19730805hg38UCSC Ensembl
Innerchr14:19780172..20191821hg19UCSC Ensembl
Outerchr14:19779501..20198964hg19UCSC Ensembl
Innerchr14:18850172..19261661hg18UCSC Ensembl
Outerchr14:18849501..19268804hg18UCSC Ensembl
Innerchr14:18850172..19261661hg17UCSC Ensembl
Outerchr14:18849501..19268804hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38499857
hg19419464
hg18419304
hg17419304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA10863
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)nssv20796
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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