A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23834



Internal ID15492469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39898914..39899688hg38UCSC Ensembl
Outerchr19:39897577..39900864hg38UCSC Ensembl
Innerchr19:40388981..40389784hg19UCSC Ensembl
Outerchr19:40388217..40390938hg19UCSC Ensembl
Innerchr19:45080821..45081624hg18UCSC Ensembl
Outerchr19:45080057..45082778hg18UCSC Ensembl
Innerchr19:45080821..45081624hg17UCSC Ensembl
Outerchr19:45080057..45082778hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383288
hg192722
hg182722
hg172722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9725
Supporting Variants
SamplesNA18942
Known GenesFCGBP
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)nssv23834
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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