A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18970



Internal ID15831873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:38330465..38334160hg38UCSC Ensembl
Outerchr14:38329266..38334673hg38UCSC Ensembl
Innerchr14:38799669..38803364hg19UCSC Ensembl
Outerchr14:38798470..38803877hg19UCSC Ensembl
Innerchr14:37869420..37873115hg18UCSC Ensembl
Outerchr14:37868221..37873628hg18UCSC Ensembl
Innerchr14:37869420..37873115hg17UCSC Ensembl
Outerchr14:37868221..37873628hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg385408
hg195408
hg185408
hg175408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9135
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)nssv18970
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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