A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977533



Internal ID52422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:164224686..164224819hg38UCSC Ensembl
chr5:163651692..163651825hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458795
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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