A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23870



Internal ID15844899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19710204..19710933hg38UCSC Ensembl
Outerchr14:19709549..19711241hg38UCSC Ensembl
Innerchr14:20178363..20179092hg19UCSC Ensembl
Outerchr14:20177708..20179400hg19UCSC Ensembl
Innerchr14:19248203..19248932hg18UCSC Ensembl
Outerchr14:19247548..19249240hg18UCSC Ensembl
Innerchr14:19248203..19248932hg17UCSC Ensembl
Outerchr14:19247548..19249240hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381693
hg191693
hg181693
hg171693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA19240
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)nssv23870
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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