A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26212



Internal ID15842488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34747426..34748942hg38UCSC Ensembl
Outerchr19:34746728..34749397hg38UCSC Ensembl
Innerchr19:35238331..35239847hg19UCSC Ensembl
Outerchr19:35237633..35240302hg19UCSC Ensembl
Innerchr19:39930171..39931687hg18UCSC Ensembl
Outerchr19:39929473..39932142hg18UCSC Ensembl
Innerchr19:39930171..39931687hg17UCSC Ensembl
Outerchr19:39929473..39932142hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg382670
hg192670
hg182670
hg172670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9708
Supporting Variants
SamplesNA19144
Known Genes
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)nssv26212
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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