A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2979n223



Internal ID22805947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3674772..4220645hg38UCSC Ensembl
chr17:3578066..4123940hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38545874
hg19545875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6511190, nsv6509238
Samples
Known GenesANKFY1, ATP2A3, C17orf85, CAMKK1, CYB5D2, GSG2, ITGAE, P2RX1, P2RX5, P2RX5-TAX1BP3, ZZEF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv2979n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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