A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6089607



Internal ID21998840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102082469..102082469hg38UCSC Ensembl
chr12:102476247..102476247hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17599255
Samples
Known GenesNUP37
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6089607
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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