A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17517598



Internal ID21841957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229895335..229895648hg38UCSC Ensembl
chr2:230760051..230760364hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5987742
Supporting Variants
Samples
Known GenesTRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17517598
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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