A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457343



Internal ID235390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53801790..53805853hg38UCSC Ensembl
chr6:53666588..53670651hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384064
hg194064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982615
Samples
Known GenesLRRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457343
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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