A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248848



Internal ID20815888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179997376..179998309hg38UCSC Ensembl
chr1:179966511..179967444hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6549022
Supporting Variants
Samples
Known GenesCEP350
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18248848
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00014


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