A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973250



Internal ID49552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128978609..129035557hg38UCSC Ensembl
chr5:128314302..128371250hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3856949
hg1956949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454281
Supporting Variants
Samples
Known GenesSLC27A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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