A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016388



Internal ID18758923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:79748262..79816274hg38UCSC Ensembl
Innerchr8:80660497..80728509hg19UCSC Ensembl
Innerchr8:80823052..80891064hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3868013
hg1968013
hg1868013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7245n100
Supporting Variantsnssv3689589
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)nsv1016388
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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