A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23898



Internal ID15480656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:23133973..23134237hg38UCSC Ensembl
Outerchr19:23133261..23135372hg38UCSC Ensembl
Innerchr19:23316775..23317039hg19UCSC Ensembl
Outerchr19:23316063..23318174hg19UCSC Ensembl
Innerchr19:23108615..23108879hg18UCSC Ensembl
Outerchr19:23107903..23110014hg18UCSC Ensembl
Innerchr19:23108615..23108879hg17UCSC Ensembl
Outerchr19:23107903..23110014hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg382112
hg192112
hg182112
hg172112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9686
Supporting Variants
SamplesNA07029
Known GenesZNF730
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)nssv23898
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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