A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv412n206



Internal ID22755716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178038000..178048000hg38UCSC Ensembl
chr5:177465001..177475001hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5463175, nsv5455090
Samples
Known GenesFAM153C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv412n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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