A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396255



Internal ID175675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94791460..94791472hg38UCSC Ensembl
chr8:95803688..95803700hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014181
Samples
Known GenesDPY19L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396255
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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