A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763179



Internal ID20539039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41774651..41774651hg38UCSC Ensembl
chr12:42168453..42168453hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288129
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763179
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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