A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27499



Internal ID15841976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1690212..1693435hg38UCSC Ensembl
Outerchr20:1689586..1694075hg38UCSC Ensembl
Innerchr20:1670858..1674081hg19UCSC Ensembl
Outerchr20:1670232..1674721hg19UCSC Ensembl
Innerchr20:1618858..1622081hg18UCSC Ensembl
Outerchr20:1618232..1622721hg18UCSC Ensembl
Innerchr20:1618858..1622081hg17UCSC Ensembl
Outerchr20:1618232..1622721hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg384490
hg194490
hg184490
hg174490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9779
Supporting Variants
SamplesNA19132
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)nssv27499
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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