A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6082866



Internal ID21992099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53296704..53296704hg38UCSC Ensembl
chr12:53690488..53690488hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604328
Samples
Known GenesPFDN5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6082866
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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