A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050689



Internal ID18793220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14683524..14983611hg38UCSC Ensembl
Innerchr16:14777381..15077468hg19UCSC Ensembl
Innerchr16:14684882..14984969hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38300088
hg19300088
hg18300088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2738n100
Supporting Variantsnssv3718893
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, PLA2G10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050689
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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