A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20664



Internal ID15840396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18595008..19159931hg38UCSC Ensembl
Outerchr14:18591020..19160753hg38UCSC Ensembl
Innerchr14:19371485..19748043hg19UCSC Ensembl
Outerchr14:19367497..19748865hg19UCSC Ensembl
Innerchr14:18441485..18818043hg18UCSC Ensembl
Outerchr14:18437497..18818865hg18UCSC Ensembl
Innerchr14:18441485..18818043hg17UCSC Ensembl
Outerchr14:18437497..18818865hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38569734
hg19381369
hg18381369
hg17381369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18975
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)nssv20664
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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