A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411474



Internal ID22469344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122712753..122712810hg38UCSC Ensembl
chr5:122048448..122048505hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905462
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411474
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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