A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442559



Internal ID220982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229600227..229600442hg38UCSC Ensembl
chr1:229735974..229736189hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897558
Samples
Known GenesTAF5L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442559
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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