A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2988n100



Internal ID20154604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56629882..56671957hg38UCSC Ensembl
chr16:56663794..56705869hg19UCSC Ensembl
chr16:55221295..55263370hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3842076
hg1942076
hg1842076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056789, nsv1063146
Samples
Known GenesMT1A, MT1B, MT1DP, MT1F, MT1G, MT1H, MT1JP, MT1M
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2988n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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