A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752242



Internal ID20528102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241614756..241614756hg38UCSC Ensembl
chr1:241778058..241778058hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281962
Samples
Known GenesOPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752242
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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