A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4519n223



Internal ID22807487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13052401..13374500hg38UCSC Ensembl
chr21:14424722..14746821hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38322100
hg19322100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6548211, nsv6539952
Samples
Known GenesANKRD30BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4519n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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