A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438406



Internal ID216972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58209889..58210015hg38UCSC Ensembl
chr3:58195616..58195742hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933000
Samples
Known GenesDNASE1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438406
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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