A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045342



Internal ID18787873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18162067..18705971hg38UCSC Ensembl
Innerchr16:18255924..18717293hg19UCSC Ensembl
Innerchr16:18163425..18624794hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38543905
hg19461370
hg18461370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2782n100
Supporting Variantsnssv3558108
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)nsv1045342
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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