A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446421



Internal ID224744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8152149..8152388hg38UCSC Ensembl
chr2:8292279..8292518hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909651
Samples
Known GenesLINC00299
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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