A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399640



Internal ID179028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86468328..86468379hg38UCSC Ensembl
chr1:86934011..86934062hg19UCSC Ensembl
Cytoband1p22.3
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 Variantsnssv16908271
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399640
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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