A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411991



Internal ID22469861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46713618..46713775hg38UCSC Ensembl
chr3:46755108..46755265hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894997
Supporting Variants
Samples
Known GenesPRSS50
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411991
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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