A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523000



Internal ID299251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62690572..62693855hg38UCSC Ensembl
chr18:60357805..60361088hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg383284
hg193284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718763
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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