A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016685



Internal ID19105902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:162784..247042hg38UCSC Ensembl
Innerchr8:112784..197042hg19UCSC Ensembl
Innerchr8:102784..187042hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3884259
hg1984259
hg1884259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6790n100
Supporting Variantsnssv3674911
Samples
Known GenesOR4F21, RPL23AP53, ZNF596
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016685
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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