A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514353



Internal ID290851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37210223..37210299hg38UCSC Ensembl
chr18:34790186..34790262hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717406
Samples
Known GenesKIAA1328
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514353
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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