A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423132



Internal ID202157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62046486..62046486hg38UCSC Ensembl
chr18:59713719..59713719hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718730
Samples
Known GenesPIGN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423132
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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