A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554653



Internal ID327832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133168145..133168196hg38UCSC Ensembl
chr5:132503837..132503888hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735432
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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