A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520536



Internal ID296862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40216679..40711216hg38UCSC Ensembl
chr18:37796643..38291180hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38494538
hg19494538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717567
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520536
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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