A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478597



Internal ID256149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73568588..73569906hg38UCSC Ensembl
chr10:75328346..75329664hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg381319
hg191319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036971
Samples
Known GenesUSP54
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478597
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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