A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978636



Internal ID53127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172975453..172983229hg38UCSC Ensembl
chr5:172402456..172410232hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg387777
hg197777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455379
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978636
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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