A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463942



Internal ID241832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116251807..116257000hg38UCSC Ensembl
chr5:115587504..115592697hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385194
hg195194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973764
Samples
Known GenesCOMMD10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463942
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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