A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999473



Internal ID21908816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36610617..36610678hg38UCSC Ensembl
chr5:36610719..36610780hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17544002
Samples
Known GenesSLC1A3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999473
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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