A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040576



Internal ID18783107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14658340..14958280hg38UCSC Ensembl
Innerchr16:14752197..15052137hg19UCSC Ensembl
Innerchr16:14659698..14959638hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38299941
hg19299941
hg18299941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2738n100
Supporting Variantsnssv3718892
Samples
Known GenesABCC6P2, BFAR, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, PLA2G10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040576
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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