A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211



Internal ID15497745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8002107..8002602hg38UCSC Ensembl
Outerchr8:8001896..8004852hg38UCSC Ensembl
Innerchr8:7859629..7860124hg19UCSC Ensembl
Outerchr8:7859418..7862374hg19UCSC Ensembl
Innerchr8:7897039..7897534hg18UCSC Ensembl
Outerchr8:7896828..7899784hg18UCSC Ensembl
Innerchr8:7897039..7897534hg17UCSC Ensembl
Outerchr8:7896828..7899784hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382957
hg192957
hg182957
hg172957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19240
Known GenesFAM66E
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)nssv18211
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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