A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464927



Internal ID242798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124113043..124116026hg38UCSC Ensembl
chr5:123448736..123451719hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382984
hg192984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974839
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464927
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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