A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034852



Internal ID18777385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43170611..43968893hg38UCSC Ensembl
Innerchr8:43025754..43824036hg19UCSC Ensembl
Innerchr8:43144911..43943193hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38798283
hg19798283
hg18798283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7187n100
Supporting Variantsnssv3687269
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)nsv1034852
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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