A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396053



Internal ID175473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40308919..40308970hg38UCSC Ensembl
chr4:40310936..40310987hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948117
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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