A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466486



Internal ID244321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109100627..109106684hg38UCSC Ensembl
chr6:109421830..109427887hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg386058
hg196058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986357
Samples
Known GenesCEP57L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466486
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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