A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058260



Internal ID20625301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224150247..224151916hg38UCSC Ensembl
chr1:224337949..224339618hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg381670
hg191670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318442
Supporting Variants
Samples
Known GenesFBXO28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058260
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00083


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