A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22618



Internal ID15842268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18595008..19164943hg38UCSC Ensembl
Outerchr14:18591020..19165299hg38UCSC Ensembl
Innerchr14:19371485..19753059hg19UCSC Ensembl
Outerchr14:19367497..19753415hg19UCSC Ensembl
Innerchr14:18441485..18823059hg18UCSC Ensembl
Outerchr14:18437497..18823415hg18UCSC Ensembl
Innerchr14:18441485..18823059hg17UCSC Ensembl
Outerchr14:18437497..18823415hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38574280
hg19385919
hg18385919
hg17385919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19144
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)nssv22618
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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