A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12790



Internal ID15831624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99518826..99536706hg38UCSC Ensembl
Outerchr5:99518205..99537200hg38UCSC Ensembl
Innerchr5:98854530..98872410hg19UCSC Ensembl
Outerchr5:98853909..98872904hg19UCSC Ensembl
Innerchr5:98882429..98900309hg18UCSC Ensembl
Outerchr5:98881808..98900803hg18UCSC Ensembl
Innerchr5:98882429..98900309hg17UCSC Ensembl
Outerchr5:98881808..98900803hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3818996
hg1918996
hg1818996
hg1718996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10726
Supporting Variants
SamplesNA12802
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)nssv12790
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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