A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27590



Internal ID15834075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54221882..54225670hg38UCSC Ensembl
Outerchr19:54221075..54226155hg38UCSC Ensembl
Innerchr19:54725754..54729542hg19UCSC Ensembl
Outerchr19:54724947..54730028hg19UCSC Ensembl
Innerchr19:59417566..59421354hg18UCSC Ensembl
Outerchr19:59416759..59421840hg18UCSC Ensembl
Innerchr19:59417566..59421354hg17UCSC Ensembl
Outerchr19:59416759..59421840hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385081
hg195082
hg185082
hg175082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9752
Supporting Variants
SamplesNA18517
Known GenesLILRB3
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)nssv27590
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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