A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897929



Internal ID172775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233989583..233989634hg38UCSC Ensembl
chr1:234125329..234125380hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396213
Supporting Variants
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897929
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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