A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988097



Internal ID59494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118304985..118304985hg38UCSC Ensembl
chr6:118626148..118626148hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396098
Supporting Variants
Samples
Known GenesSLC35F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988097
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.518372


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