A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215415



Internal ID20782455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128959228..128970311hg38UCSC Ensembl
chr5:128294921..128306004hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3811084
hg1911084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407776
Supporting Variants
Samples
Known GenesSLC27A6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215415
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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