A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037247



Internal ID18779778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18545386..18780530hg38UCSC Ensembl
Innerchr16:18556708..18791852hg19UCSC Ensembl
Innerchr16:18464209..18699353hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38235145
hg19235145
hg18235145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2785n100
Supporting Variantsnssv3542758, nssv3542756, nssv3542759, nssv3542760, nssv3542761, nssv3542757
Samples
Known GenesABCC6P1, NOMO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037247
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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