A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6103944



Internal ID22013177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42831015..42831015hg38UCSC Ensembl
chr18:40410980..40410980hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17627621
Samples
Known GenesRIT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6103944
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer