A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202045



Internal ID20769086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219914019..219942111hg38UCSC Ensembl
chr1:220087361..220115453hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3828093
hg1928093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6320082
Supporting Variants
Samples
Known GenesRNU5F-1, SLC30A10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202045
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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