A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23816



Internal ID15844956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19183273..19184002hg38UCSC Ensembl
Outerchr14:19182965..19184578hg38UCSC Ensembl
Innerchr14:19803704..19804433hg19UCSC Ensembl
Outerchr14:19803128..19804741hg19UCSC Ensembl
Innerchr14:18873704..18874433hg18UCSC Ensembl
Outerchr14:18873128..18874741hg18UCSC Ensembl
Innerchr14:18873704..18874433hg17UCSC Ensembl
Outerchr14:18873128..18874741hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381614
hg191614
hg181614
hg171614
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)nssv23816
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer