A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448850



Internal ID227106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7937874..7937931hg38UCSC Ensembl
chr2:8078005..8078062hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909635
Samples
Known GenesLINC00298
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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