A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750213



Internal ID20526249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142824175..142824241hg38UCSC Ensembl
chr3:142543017..142543083hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262547
Samples
Known GenesPCOLCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750213
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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