A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473546



Internal ID251232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20800654..20887675hg38UCSC Ensembl
chr6:20800885..20887906hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3887022
hg1987022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981258
Samples
Known GenesCDKAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473546
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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