A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399917



Internal ID22457787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47197964..47198094hg38UCSC Ensembl
chr2:47425103..47425233hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877567
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399917
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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