A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057866



Internal ID20624906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219997905..219999571hg38UCSC Ensembl
chr1:220171247..220172913hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381667
hg191667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334141
Supporting Variants
Samples
Known GenesEPRS, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057866
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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