A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752764



Internal ID20528624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222645846..222645846hg38UCSC Ensembl
chr1:222819188..222819188hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281691
Samples
Known GenesMIA3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752764
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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