A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525011



Internal ID301189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5473963..5475464hg38UCSC Ensembl
chr18:5473962..5475463hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716046
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525011
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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