A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730348



Internal ID20506259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142590792..142590853hg38UCSC Ensembl
chr2:143348361..143348422hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16292706
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730348
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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