A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054336



Internal ID18796867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18168304..18715910hg38UCSC Ensembl
Innerchr16:18262161..18727232hg19UCSC Ensembl
Innerchr16:18169662..18634733hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38547607
hg19465072
hg18465072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2782n100
Supporting Variantsnssv3558111
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)nsv1054336
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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