A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393863



Internal ID22451733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173935854..173935929hg38UCSC Ensembl
chr2:174800582..174800657hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895765
Supporting Variants
Samples
Known GenesSP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393863
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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