A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24682



Internal ID15832994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19640585..19716201hg38UCSC Ensembl
Outerchr14:19639095..19716536hg38UCSC Ensembl
Innerchr14:20108819..20184360hg19UCSC Ensembl
Outerchr14:20107329..20184695hg19UCSC Ensembl
Innerchr14:19178584..19254200hg18UCSC Ensembl
Outerchr14:19177094..19254535hg18UCSC Ensembl
Innerchr14:19178584..19254200hg17UCSC Ensembl
Outerchr14:19177094..19254535hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3877442
hg1977367
hg1877442
hg1777442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18502
Known GenesOR11H2
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)nssv24682
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