A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050163



Internal ID18792694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741198..14964965hg38UCSC Ensembl
Innerchr16:14835055..15058822hg19UCSC Ensembl
Innerchr16:14742556..14966323hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38223768
hg19223768
hg18223768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2742n100
Supporting Variantsnssv3557250
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)nsv1050163
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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