A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19343



Internal ID15839447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7019197..7021337hg38UCSC Ensembl
Outerchr8:7018096..7021787hg38UCSC Ensembl
Innerchr8:6876719..6878859hg19UCSC Ensembl
Outerchr8:6875618..6879309hg19UCSC Ensembl
Innerchr8:6864129..6866269hg18UCSC Ensembl
Outerchr8:6863028..6866719hg18UCSC Ensembl
Innerchr8:6864129..6866269hg17UCSC Ensembl
Outerchr8:6863028..6866719hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383692
hg193692
hg183692
hg173692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8278
Supporting Variants
SamplesNA18972
Known GenesDEFA1, DEFA1B, DEFA3
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)nssv19343
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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