A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040978



Internal ID18783509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741198..14983611hg38UCSC Ensembl
Innerchr16:14835055..15077468hg19UCSC Ensembl
Innerchr16:14742556..14984969hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38242414
hg19242414
hg18242414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2742n100
Supporting Variantsnssv3718900, nssv3557254, nssv3718899
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)nsv1040978
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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