A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845119



Internal ID22028762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234147246..234147246hg38UCSC Ensembl
chr1:234282992..234282992hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241322
Supporting Variants
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845119
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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