A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25219



Internal ID15831401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:290567..292051hg38UCSC Ensembl
Outerchr19:289981..292869hg38UCSC Ensembl
Innerchr19:290567..292051hg19UCSC Ensembl
Outerchr19:289981..292869hg19UCSC Ensembl
Innerchr19:241567..243051hg18UCSC Ensembl
Outerchr19:240981..243869hg18UCSC Ensembl
Innerchr19:241567..243051hg17UCSC Ensembl
Outerchr19:240981..243869hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382889
hg192889
hg182889
hg172889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9653
Supporting Variants
SamplesNA12740
Known GenesPPAP2C
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)nssv25219
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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