A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20766



Internal ID15829421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18583762..19169707hg38UCSC Ensembl
Outerchr14:18581357..19169707hg38UCSC Ensembl
Innerchr14:19360239..19771144hg19UCSC Ensembl
Outerchr14:19357834..19771474hg19UCSC Ensembl
Innerchr14:18430239..18841144hg18UCSC Ensembl
Outerchr14:18427834..18841474hg18UCSC Ensembl
Innerchr14:18430239..18841144hg17UCSC Ensembl
Outerchr14:18427834..18841474hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38588351
hg19413641
hg18413641
hg17413641
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA10863
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)nssv20766
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer