A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988852



Internal ID21898195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30130539..30130659hg38UCSC Ensembl
chr2:30353405..30353525hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518574
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988852
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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