A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19361



Internal ID15832258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19105140..19122122hg38UCSC Ensembl
Outerchr14:19105058..19122692hg38UCSC Ensembl
Innerchr14:19692818..19709833hg19UCSC Ensembl
Outerchr14:19692736..19710403hg19UCSC Ensembl
Innerchr14:18762818..18779833hg18UCSC Ensembl
Outerchr14:18762736..18780403hg18UCSC Ensembl
Innerchr14:18762818..18779833hg17UCSC Ensembl
Outerchr14:18762736..18780403hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3817635
hg1917668
hg1817668
hg1717668
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)nssv19361
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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