A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988084



Internal ID59483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118142184..118142235hg38UCSC Ensembl
chr6:118463347..118463398hg19UCSC Ensembl
Cytoband6q22.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408907
Supporting Variants
Samples
Known GenesSLC35F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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