A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481658



Internal ID22539562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80291058..80294837hg38UCSC Ensembl
chr2:80518183..80521962hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383780
hg193780
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833819
Supporting Variants
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481658
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