A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918981



Internal ID13424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143318508..143318595hg38UCSC Ensembl
chr2:144076077..144076164hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446917
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918981
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.009991


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