A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764667



Internal ID20540527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190430775..190430775hg38UCSC Ensembl
chr2:191295501..191295501hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286088
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764667
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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