A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6098272



Internal ID22007505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53108412..53108412hg38UCSC Ensembl
chr12:53502196..53502196hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381973
hg191973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17617113
Samples
Known GenesSOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6098272
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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