A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049785



Internal ID18792316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18284986..18780530hg38UCSC Ensembl
Innerchr16:18378843..18791852hg19UCSC Ensembl
Innerchr16:18286344..18699353hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38495545
hg19413010
hg18413010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2784n100
Supporting Variantsnssv3558121, nssv3716924
Samples
Known GenesABCC6P1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049785
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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