A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046408



Internal ID18788939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18191217..18757371hg38UCSC Ensembl
Innerchr16:18285074..18768693hg19UCSC Ensembl
Innerchr16:18192575..18676194hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38566155
hg19483620
hg18483620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2783n100
Supporting Variantsnssv3558112
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)nsv1046408
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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