A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462427



Internal ID240355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133129945..133130029hg38UCSC Ensembl
chr6:133451084..133451168hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969487
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462427
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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