A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554400



Internal ID327589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10440332..10440382hg38UCSC Ensembl
chr2:10580458..10580508hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383304
hg193304
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910005
Samples
Known GenesODC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554400
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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