A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22065



Internal ID15488099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73539880..73579754hg38UCSC Ensembl
Outerchr14:73539038..73581819hg38UCSC Ensembl
Innerchr14:74006584..74046458hg19UCSC Ensembl
Outerchr14:74005742..74048523hg19UCSC Ensembl
Innerchr14:73076337..73116211hg18UCSC Ensembl
Outerchr14:73075495..73118276hg18UCSC Ensembl
Innerchr14:73076337..73116211hg17UCSC Ensembl
Outerchr14:73075495..73118276hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3842782
hg1942782
hg1842782
hg1742782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA18537
Known GenesACOT1, ACOT2, HEATR4
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)nssv22065
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