A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527021



Internal ID303129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50324193..50325328hg38UCSC Ensembl
chr18:47850563..47851698hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381136
hg191136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718110
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527021
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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