A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978497



Internal ID53042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166890595..166892817hg38UCSC Ensembl
chr5:166317600..166319822hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382223
hg192223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472602
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978497
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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