A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22297



Internal ID15483183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73528019..73581819hg38UCSC Ensembl
Outerchr14:73525409..73584725hg38UCSC Ensembl
Innerchr14:73994723..74048523hg19UCSC Ensembl
Outerchr14:73992113..74051429hg19UCSC Ensembl
Innerchr14:73064476..73118276hg18UCSC Ensembl
Outerchr14:73061866..73121182hg18UCSC Ensembl
Innerchr14:73064476..73118276hg17UCSC Ensembl
Outerchr14:73061866..73121182hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3859317
hg1959317
hg1859317
hg1759317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA11830
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)nssv22297
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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