A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978513



Internal ID53052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166998817..167006558hg38UCSC Ensembl
chr5:166425822..166433563hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg387742
hg197742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462855
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978513
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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