A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23825



Internal ID15486529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73560154..73579754hg38UCSC Ensembl
Outerchr14:73558877..73581819hg38UCSC Ensembl
Innerchr14:74026858..74046458hg19UCSC Ensembl
Outerchr14:74025581..74048523hg19UCSC Ensembl
Innerchr14:73096611..73116211hg18UCSC Ensembl
Outerchr14:73095334..73118276hg18UCSC Ensembl
Innerchr14:73096611..73116211hg17UCSC Ensembl
Outerchr14:73095334..73118276hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3822943
hg1922943
hg1822943
hg1722943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA18504
Known GenesACOT2, 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)nssv23825
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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