A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125490



Internal ID20692530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122063583..122064155hg38UCSC Ensembl
chr5:121399278..121399850hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6396293
Supporting Variants
Samples
Known GenesLOX
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125490
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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