A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2783n100



Internal ID20154399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18148857..18780530hg38UCSC Ensembl
chr16:18242714..18791852hg19UCSC Ensembl
chr16:18150215..18699353hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38631674
hg19549139
hg18549139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050621, nsv1035323, nsv1043620, nsv1046408, nsv1035321
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)dgv2783n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer