A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965973



Internal ID44637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53757679..53763698hg38UCSC Ensembl
chr5:53053509..53059528hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386020
hg196020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453996
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965973
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002498


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