A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974320



Internal ID50251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130186283..130186341hg38UCSC Ensembl
chr5:129521976..129522034hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141380
Supporting Variants
Samples
Known GenesCHSY3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006258


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