A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27071



Internal ID15833342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54241633..54243876hg38UCSC Ensembl
Outerchr19:54240823..54243897hg38UCSC Ensembl
Innerchr19:54745509..54747714hg19UCSC Ensembl
Outerchr19:54744699..54747735hg19UCSC Ensembl
Innerchr19:59437321..59439526hg18UCSC Ensembl
Outerchr19:59436511..59439547hg18UCSC Ensembl
Innerchr19:59437321..59439526hg17UCSC Ensembl
Outerchr19:59436511..59439547hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383075
hg193037
hg183037
hg173037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9752
Supporting Variants
SamplesNA18504
Known GenesLILRA6
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)nssv27071
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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