A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6083704



Internal ID21992937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49366546..49366546hg38UCSC Ensembl
chr12:49760329..49760329hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17598475
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6083704
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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