A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989484



Internal ID21898827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49365913..49468138hg38UCSC Ensembl
chr2:49593052..49695276hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38102226
hg19102225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527678
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989484
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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