A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27899



Internal ID15491249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23979173..24050706hg38UCSC Ensembl
Outerchr20:23958976..24142610hg38UCSC Ensembl
Innerchr20:23959810..24031343hg19UCSC Ensembl
Outerchr20:23939613..24123246hg19UCSC Ensembl
Innerchr20:23907810..23979343hg18UCSC Ensembl
Outerchr20:23887613..24071246hg18UCSC Ensembl
Innerchr20:23907810..23979343hg17UCSC Ensembl
Outerchr20:23887613..24071246hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38183635
hg19183634
hg18183634
hg17183634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9793
Supporting Variants
SamplesNA18860
Known GenesGGTLC1
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)nssv27899
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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