A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19241



Internal ID15832194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18681422..18697654hg38UCSC Ensembl
Outerchr14:18679896..18698311hg38UCSC Ensembl
Innerchr14:19457899..19474131hg19UCSC Ensembl
Outerchr14:19456373..19474788hg19UCSC Ensembl
Innerchr14:18527899..18544131hg18UCSC Ensembl
Outerchr14:18526373..18544788hg18UCSC Ensembl
Innerchr14:18527899..18544131hg17UCSC Ensembl
Outerchr14:18526373..18544788hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3818416
hg1918416
hg1818416
hg1718416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA12872
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)nssv19241
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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