A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27694



Internal ID15493126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23979173..24656298hg38UCSC Ensembl
Outerchr20:23958976..24754214hg38UCSC Ensembl
Innerchr20:23959810..24636934hg19UCSC Ensembl
Outerchr20:23939613..24734850hg19UCSC Ensembl
Innerchr20:23907810..24584934hg18UCSC Ensembl
Outerchr20:23887613..24682850hg18UCSC Ensembl
Innerchr20:23907810..24584934hg17UCSC Ensembl
Outerchr20:23887613..24682850hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38795239
hg19795238
hg18795238
hg17795238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9793
Supporting Variants
SamplesNA18972
Known GenesFLJ33581, GGTLC1, SYNDIG1
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)nssv27694
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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