A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462779



Internal ID240701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80113718..80118050hg38UCSC Ensembl
chr5:79409541..79413873hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384333
hg194333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967278
Samples
Known GenesSERINC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462779
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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