A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407454



Internal ID22465324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108904527..108904647hg38UCSC Ensembl
chr2:109520983..109521103hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886213
Supporting Variants
Samples
Known GenesEDAR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407454
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