A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24355



Internal ID15480986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57709490..57709969hg38UCSC Ensembl
Outerchr20:57708596..57711165hg38UCSC Ensembl
Innerchr20:56284546..56285025hg19UCSC Ensembl
Outerchr20:56283652..56286221hg19UCSC Ensembl
Innerchr20:55717952..55718431hg18UCSC Ensembl
Outerchr20:55717058..55719627hg18UCSC Ensembl
Innerchr20:55717952..55718431hg17UCSC Ensembl
Outerchr20:55717058..55719627hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg382570
hg192570
hg182570
hg172570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9818
Supporting Variants
SamplesNA07029
Known GenesPMEPA1
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)nssv24355
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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