A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554393



Internal ID327582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59328179..59328230hg38UCSC Ensembl
chr18:56995411..56995462hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718564
Samples
Known GenesLMAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554393
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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