A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020582



Internal ID18763117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27452251..27549327hg38UCSC Ensembl
Innerchr8:27309768..27406844hg19UCSC Ensembl
Innerchr8:27365685..27462761hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3897077
hg1997077
hg1897077
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685519
Samples
Known GenesCHRNA2, EPHX2, PTK2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020582
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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