A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207289



Internal ID20774330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143412157..143444730hg38UCSC Ensembl
chr2:144169726..144202299hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3832574
hg1932574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6340173
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207289
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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