A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27091



Internal ID15833809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55050837..55053257hg38UCSC Ensembl
Outerchr19:55049356..55053978hg38UCSC Ensembl
Innerchr19:55562205..55564625hg19UCSC Ensembl
Outerchr19:55560724..55565346hg19UCSC Ensembl
Innerchr19:60254017..60256437hg18UCSC Ensembl
Outerchr19:60252536..60257158hg18UCSC Ensembl
Innerchr19:60254017..60256437hg17UCSC Ensembl
Outerchr19:60252536..60257158hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg384623
hg194623
hg184623
hg174623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9770
Supporting Variants
SamplesNA18504
Known GenesRDH13
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)nssv27091
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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