A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039511



Internal ID18782042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741198..15000839hg38UCSC Ensembl
Innerchr16:14835055..15094696hg19UCSC Ensembl
Innerchr16:14742556..15002197hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38259642
hg19259642
hg18259642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2742n100
Supporting Variantsnssv3557531
Samples
Known GenesABCC6P2, LOC100288162, 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)nsv1039511
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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