A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26799



Internal ID15844197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103528663..103551050hg38UCSC Ensembl
Outerchr14:103527923..103551634hg38UCSC Ensembl
Innerchr14:103995000..104017387hg19UCSC Ensembl
Outerchr14:103994260..104017971hg19UCSC Ensembl
Innerchr14:103064753..103087140hg18UCSC Ensembl
Outerchr14:103064013..103087724hg18UCSC Ensembl
Innerchr14:103064753..103087140hg17UCSC Ensembl
Outerchr14:103064013..103087724hg17UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3823712
hg1923712
hg1823712
hg1723712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9170
Supporting Variants
SamplesNA19221
Known GenesTRMT61A
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)nssv26799
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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