A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2974n223



Internal ID22805942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2408604..2664850hg38UCSC Ensembl
chr17:2311898..2568144hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38256247
hg19256247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6515354, nsv6498775
Samples
Known GenesLOC284009, METTL16, PAFAH1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv2974n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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