A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517324



Internal ID293750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59749927..59755147hg38UCSC Ensembl
chr18:57417159..57422379hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg385221
hg195221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718588
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517324
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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