A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2742n100



Internal ID19013110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14741198..15022388hg38UCSC Ensembl
chr16:14835055..15116245hg19UCSC Ensembl
chr16:14742556..15023746hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38281191
hg19281191
hg18281191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039511, nsv1036093, nsv1050293, nsv1050163, nsv1047253, nsv1052734, nsv1052239, nsv1040978
Samples
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, PDXDC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2742n100
Frequency
Sample Size29084
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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