A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030451



Internal ID18772982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42688183..42763247hg38UCSC Ensembl
Innerchr8:42543326..42618390hg19UCSC Ensembl
Innerchr8:42662483..42737547hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3875065
hg1975065
hg1875065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7186n100
Supporting Variantsnssv3687265
Samples
Known GenesCHRNA6, CHRNB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030451
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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