A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927351



Internal ID18947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178093390..178093441hg38UCSC Ensembl
chr2:178958117..178958168hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554703
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927351
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.013543


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