A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396507



Internal ID175923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85676927..85676978hg38UCSC Ensembl
chr6:86386645..86386696hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985295
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396507
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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