A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765120



Internal ID20540980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70286108..70286108hg38UCSC Ensembl
chr12:70679888..70679888hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266444
Samples
Known GenesCNOT2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765120
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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