A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16283229



Internal ID20492447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102524445..102524445hg38UCSC Ensembl
chr12:102918223..102918223hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg385985
hg195985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4767209
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16283229
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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