A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519058



Internal ID295416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48488046..48489204hg38UCSC Ensembl
chr17:46565408..46566566hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713561
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519058
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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