A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473780



Internal ID251462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139678001..139678063hg38UCSC Ensembl
chr6:139999138..139999200hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970193
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473780
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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