A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450240



Internal ID228454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:158826978..158827037hg38UCSC Ensembl
chr3:158544767..158544826hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940135
Samples
Known GenesMFSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450240
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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