A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16374



Internal ID15493538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12373597..12384631hg38UCSC Ensembl
Outerchr8:12369237..12387305hg38UCSC Ensembl
Innerchr8:12231106..12242140hg19UCSC Ensembl
Outerchr8:12226746..12244814hg19UCSC Ensembl
Innerchr8:12275477..12286511hg18UCSC Ensembl
Outerchr8:12271117..12289185hg18UCSC Ensembl
Innerchr8:12275477..12286511hg17UCSC Ensembl
Outerchr8:12271117..12289185hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3818069
hg1918069
hg1818069
hg1718069
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18975
Known GenesFAM66A, LOC649352
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)nssv16374
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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