A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448038



Internal ID226323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175129864..175140898hg38UCSC Ensembl
chr3:174847654..174858688hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3811035
hg1911035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943225
Samples
Known GenesNAALADL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448038
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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