A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2781n100



Internal ID20154397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18148857..18757371hg38UCSC Ensembl
chr16:18242714..18768693hg19UCSC Ensembl
chr16:18150215..18676194hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38608515
hg19525980
hg18525980
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044786, nsv1041748
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)dgv2781n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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