A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058549



Internal ID20625589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229600224..229600442hg38UCSC Ensembl
chr1:229735971..229736189hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335064
Supporting Variants
Samples
Known GenesTAF5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058549
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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