A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457659



Internal ID235698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80056683..80056765hg38UCSC Ensembl
chr5:79352506..79352588hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967277
Samples
Known GenesTHBS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457659
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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