A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406048



Internal ID22463918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207173031..207177180hg38UCSC Ensembl
chr2:208037755..208041904hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384150
hg194150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889429
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406048
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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