A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487918



Internal ID265239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143868012..143870895hg38UCSC Ensembl
chr8:144942180..144945063hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382884
hg192884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019964
Samples
Known GenesEPPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487918
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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