A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422250



Internal ID201298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32808117..32811796hg38UCSC Ensembl
chr1:33273718..33277397hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg383680
hg193680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903661
Samples
Known GenesYARS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422250
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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