A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021144



Internal ID18763678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43202651..43890065hg38UCSC Ensembl
Innerchr8:43057794..43745208hg19UCSC Ensembl
Innerchr8:43176951..43864365hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38687415
hg19687415
hg18687415
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7187n100
Supporting Variantsnssv3757237
Samples
Known GenesHGSNAT, POTEA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021144
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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