A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052239



Internal ID18794770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741198..14969848hg38UCSC Ensembl
Innerchr16:14835055..15063705hg19UCSC Ensembl
Innerchr16:14742556..14971206hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38228651
hg19228651
hg18228651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2742n100
Supporting Variantsnssv3557251, nssv3557253, nssv3557252
Samples
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052239
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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