A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967825



Internal ID45868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52697807..52722000hg38UCSC Ensembl
chr5:51993641..52017834hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3824194
hg1924194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469649
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967825
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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