A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20936



Internal ID15841199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18595008..19153658hg38UCSC Ensembl
Outerchr14:18591020..19154079hg38UCSC Ensembl
Innerchr14:19371485..19741367hg19UCSC Ensembl
Outerchr14:19367497..19741788hg19UCSC Ensembl
Innerchr14:18441485..18811367hg18UCSC Ensembl
Outerchr14:18437497..18811788hg18UCSC Ensembl
Innerchr14:18441485..18811367hg17UCSC Ensembl
Outerchr14:18437497..18811788hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38563060
hg19374292
hg18374292
hg17374292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19007
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
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)nssv20936
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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