A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489261



Internal ID22547180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201028793..201032775hg38UCSC Ensembl
chr2:201893516..201897498hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383983
hg193983
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832362
Supporting Variants
Samples
Known GenesFAM126B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489261
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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