A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040533



Internal ID18783064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16246571..16666817hg38UCSC Ensembl
Innerchr16:16340428..16760674hg19UCSC Ensembl
Innerchr16:16247929..16668175hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38420247
hg19420247
hg18420247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2777n100
Supporting Variantsnssv3558022
Samples
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040533
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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