A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409707



Internal ID189027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28323378..28323429hg38UCSC Ensembl
chr2:28546245..28546296hg19UCSC Ensembl
Cytoband2p23.2
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 Variantsnssv16911323
Samples
Known GenesBRE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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