A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399516



Internal ID178905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186399746..186399797hg38UCSC Ensembl
chr3:186117535..186117586hg19UCSC Ensembl
Cytoband3q27.3
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 Variantsnssv16942609
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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