A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031711



Internal ID19120933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117122430..117310323hg38UCSC Ensembl
Innerchr8:118134669..118322562hg19UCSC Ensembl
Innerchr8:118203850..118391743hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38187894
hg19187894
hg18187894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757359
Samples
Known GenesSLC30A8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031711
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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