A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18241



Internal ID15497746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12127193..12128079hg38UCSC Ensembl
Outerchr8:12123246..12128354hg38UCSC Ensembl
Innerchr8:11984702..11985588hg19UCSC Ensembl
Outerchr8:11980755..11985863hg19UCSC Ensembl
Innerchr8:12022111..12022997hg18UCSC Ensembl
Outerchr8:12018164..12023272hg18UCSC Ensembl
Innerchr8:12022111..12022997hg17UCSC Ensembl
Outerchr8:12018164..12023272hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg385109
hg195109
hg185109
hg175109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA19240
Known GenesFAM66D, LOC392196
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)nssv18241
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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