A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462871



Internal ID240793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180443800..180540225hg38UCSC Ensembl
chr5:179870800..179967225hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3896426
hg1996426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977783
Samples
Known GenesCNOT6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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