A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18044381



Internal ID20611421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9397994..9398997hg38UCSC Ensembl
chr18:9397992..9398995hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524910
Supporting Variants
Samples
Known GenesTWSG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18044381
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00087


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