A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051500



Internal ID18794031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18284986..18756784hg38UCSC Ensembl
Innerchr16:18378843..18768106hg19UCSC Ensembl
Innerchr16:18286344..18675607hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38471799
hg19389264
hg18389264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2784n100
Supporting Variantsnssv3558119
Samples
Known GenesABCC6P1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051500
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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