A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399321



Internal ID178710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:115934794..115934845hg38UCSC Ensembl
chr8:116947019..116947070hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017916
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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