A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2989n100



Internal ID20154605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56629882..56693960hg38UCSC Ensembl
chr16:56663794..56727872hg19UCSC Ensembl
chr16:55221295..55285373hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3864079
hg1964079
hg1864079
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067409, nsv1066739, nsv1055764, nsv1067329
Samples
Known GenesMT1A, MT1B, MT1DP, MT1F, MT1G, MT1H, MT1IP, MT1JP, MT1M, MT1X
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2989n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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