A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513957



Internal ID290462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51696681..51709796hg38UCSC Ensembl
chr18:49223051..49236166hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3813116
hg1913116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718174
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513957
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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