A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22061



Internal ID15485674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35361079..35362040hg38UCSC Ensembl
Outerchr19:35360550..35362747hg38UCSC Ensembl
Innerchr19:35851981..35852942hg19UCSC Ensembl
Outerchr19:35851452..35853649hg19UCSC Ensembl
Innerchr19:40543821..40544782hg18UCSC Ensembl
Outerchr19:40543292..40545489hg18UCSC Ensembl
Innerchr19:40543821..40544782hg17UCSC Ensembl
Outerchr19:40543292..40545489hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382198
hg192198
hg182198
hg172198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9712
Supporting Variants
SamplesNA12872
Known Genes
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)nssv22061
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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