A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939501



Internal ID27049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122570146..122575328hg38UCSC Ensembl
chr3:122288993..122294175hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg385183
hg195183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447734
Supporting Variants
Samples
Known GenesDTX3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939501
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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