A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527862



Internal ID303943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54524883..54528986hg38UCSC Ensembl
chr18:52051253..52055356hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg384104
hg194104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718337
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527862
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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