A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447447



Internal ID225750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149166254..149166806hg38UCSC Ensembl
chr3:148884041..148884593hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940816
Samples
Known GenesCP, HPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447447
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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