A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24399



Internal ID15840398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51594232..51598476hg38UCSC Ensembl
Outerchr19:51593613..51599845hg38UCSC Ensembl
Innerchr19:52097485..52101729hg19UCSC Ensembl
Outerchr19:52096866..52103098hg19UCSC Ensembl
Innerchr19:56789297..56793541hg18UCSC Ensembl
Outerchr19:56788678..56794910hg18UCSC Ensembl
Innerchr19:56789297..56793541hg17UCSC Ensembl
Outerchr19:56788678..56794910hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386233
hg196233
hg186233
hg176233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9740
Supporting Variants
SamplesNA18975
Known GenesFLJ30403
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)nssv24399
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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