A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6027n223



Internal ID22808995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180902501..180911100hg38UCSC Ensembl
chr5:180329501..180338100hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388600
hg198600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6415309, nsv6408616
Samples
Known GenesBTNL8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv6027n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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