A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469842



Internal ID247619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116795695..116800795hg38UCSC Ensembl
chr5:116131391..116136491hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972686
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469842
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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