A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20303



Internal ID15492793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90003063..90006856hg38UCSC Ensembl
Outerchr8:90002132..90007372hg38UCSC Ensembl
Innerchr8:91015291..91019084hg19UCSC Ensembl
Outerchr8:91014360..91019600hg19UCSC Ensembl
Innerchr8:91084467..91088260hg18UCSC Ensembl
Outerchr8:91083536..91088776hg18UCSC Ensembl
Innerchr8:91084467..91088260hg17UCSC Ensembl
Outerchr8:91083536..91088776hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg385241
hg195241
hg185241
hg175241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8365
Supporting Variants
SamplesNA18972
Known GenesDECR1
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)nssv20303
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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