A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473522



Internal ID251208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111260711..111264384hg38UCSC Ensembl
chr6:111581914..111585587hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg383674
hg193674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988750
Samples
Known GenesKIAA1919
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473522
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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