A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435148



Internal ID213800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5407288..5413744hg38UCSC Ensembl
chr2:5547421..5553877hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386457
hg196457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908981
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435148
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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