A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457646



Internal ID235686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42552767..42555528hg38UCSC Ensembl
chr4:42554784..42557545hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg382762
hg192762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949659
Samples
Known GenesATP8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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