A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19371



Internal ID15838491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12093369..12668186hg38UCSC Ensembl
Outerchr8:12087314..12668756hg38UCSC Ensembl
Innerchr8:11950878..12525695hg19UCSC Ensembl
Outerchr8:11944823..12526265hg19UCSC Ensembl
Innerchr8:11988287..12570066hg18UCSC Ensembl
Outerchr8:11982232..12570636hg18UCSC Ensembl
Innerchr8:11988287..12570066hg17UCSC Ensembl
Outerchr8:11982232..12570636hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38581443
hg19581443
hg18588405
hg17588405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18860
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
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)nssv19371
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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