A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458613



Internal ID236633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139339080..139340433hg38UCSC Ensembl
chr5:138674769..138676122hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381354
hg191354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976104
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458613
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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