A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754902



Internal ID20530762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241338792..241338792hg38UCSC Ensembl
chr2:242278207..242278207hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285156
Samples
Known GenesSEPT2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754902
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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