A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478401



Internal ID255960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50874187..50874327hg38UCSC Ensembl
chr10:52633947..52634087hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17034745
Samples
Known GenesA1CF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478401
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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