A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916448



Internal ID11680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104816525..104817263hg38UCSC Ensembl
chr2:105432983..105433721hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561797
Supporting Variants
Samples
Known GenesLOC100506421
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916448
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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