A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6099455



Internal ID22008688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65192871..65192871hg38UCSC Ensembl
chr12:65586651..65586651hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17609931
Samples
Known GenesLEMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6099455
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