A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946483



Internal ID22721974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55696480..55698273hg38UCSC Ensembl
chr18:53363711..53365504hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381794
hg191794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388166
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946483
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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