A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394484



Internal ID173915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:120002441..120002492hg38UCSC Ensembl
chr4:120923596..120923647hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955137
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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