A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425461



Internal ID204423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3046382..3046433hg38UCSC Ensembl
chr18:3046380..3046431hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715904
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425461
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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