A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019342



Internal ID18761876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:79748262..79812164hg38UCSC Ensembl
Innerchr8:80660497..80724399hg19UCSC Ensembl
Innerchr8:80823052..80886954hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3863903
hg1963903
hg1863903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7245n100
Supporting Variantsnssv3689588
Samples
Known GenesHEY1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019342
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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