A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9751



Internal ID15500977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54158885..54193528hg38UCSC Ensembl
Outerchr19:54662623..54697383hg19UCSC Ensembl
Outerchr19:59354435..59389195hg18UCSC Ensembl
Outerchr19:59354435..59389195hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3834644
hg1934761
hg1834761
hg1734761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28569, nssv27604
SamplesNA18502, NA19221
Known GenesLENG1, MBOAT7, TMC4, TSEN34
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)nsv9751
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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