A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2746n100



Internal ID20154362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14794726..15022388hg38UCSC Ensembl
chr16:14888583..15116245hg19UCSC Ensembl
chr16:14796084..15023746hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38227663
hg19227663
hg18227663
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045797, nsv1054808, nsv1050062, nsv1051228, nsv1046737, nsv1037034, nsv1041844
Samples
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, PDXDC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2746n100
Frequency
Sample Size29084
Observed Gain15
Observed Loss14
Observed Complex0
Frequencyn/a


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