A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9705



Internal ID15500931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:32978817..33062086hg38UCSC Ensembl
Outerchr19:33469723..33552992hg19UCSC Ensembl
Outerchr19:38161563..38244832hg18UCSC Ensembl
Outerchr19:38161563..38244832hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3883270
hg1983270
hg1883270
hg1783270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26926
SamplesNA19240
Known GenesRHPN2
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)nsv9705
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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