A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765058



Internal ID20540918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71479161..71479161hg38UCSC Ensembl
chr2:71706291..71706291hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263839
Samples
Known GenesDYSF
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765058
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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