A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20976



Internal ID15482654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73560154..73578191hg38UCSC Ensembl
Outerchr14:73558877..73578630hg38UCSC Ensembl
Innerchr14:74026858..74044895hg19UCSC Ensembl
Outerchr14:74025581..74045334hg19UCSC Ensembl
Innerchr14:73096611..73114648hg18UCSC Ensembl
Outerchr14:73095334..73115087hg18UCSC Ensembl
Innerchr14:73096611..73114648hg17UCSC Ensembl
Outerchr14:73095334..73115087hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3819754
hg1919754
hg1819754
hg1719754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA10863
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)nssv20976
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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