A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18910



Internal ID15831870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19006733..19011971hg38UCSC Ensembl
Outerchr14:19006283..19012317hg38UCSC Ensembl
Innerchr14:19592666..19599049hg19UCSC Ensembl
Outerchr14:19592216..19599395hg19UCSC Ensembl
Innerchr14:18662666..18669049hg18UCSC Ensembl
Outerchr14:18662216..18669395hg18UCSC Ensembl
Innerchr14:18662666..18669049hg17UCSC Ensembl
Outerchr14:18662216..18669395hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg386035
hg197180
hg187180
hg177180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA12802
Known Genes
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)nssv18910
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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