A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6032n223



Internal ID22809000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180951401..181076900hg38UCSC Ensembl
chr5:180378401..180503900hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38125500
hg19125500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6412067, nsv6400735
Samples
Known GenesBTNL3, BTNL9, MIR8089
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv6032n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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