A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441533



Internal ID220004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235116254..235116932hg38UCSC Ensembl
chr1:235279569..235280247hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896540
Samples
Known GenesTOMM20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441533
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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