A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929141



Internal ID20140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12170227..12170278hg38UCSC Ensembl
chr3:12211727..12211778hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555289
Supporting Variants
Samples
Known GenesSYN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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