A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427568



Internal ID22485438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81234780..81234831hg38UCSC Ensembl
chr5:80530599..80530650hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898803
Supporting Variants
Samples
Known GenesCKMT2, RNU5D-1, RNU5E-1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427568
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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