A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24744



Internal ID15492947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73528496..73536028hg38UCSC Ensembl
Outerchr14:73525409..73536809hg38UCSC Ensembl
Innerchr14:73995200..74002732hg19UCSC Ensembl
Outerchr14:73992113..74003513hg19UCSC Ensembl
Innerchr14:73064953..73072485hg18UCSC Ensembl
Outerchr14:73061866..73073266hg18UCSC Ensembl
Innerchr14:73064953..73072485hg17UCSC Ensembl
Outerchr14:73061866..73073266hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3811401
hg1911401
hg1811401
hg1711401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA18972
Known GenesHEATR4
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)nssv24744
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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