A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400690



Internal ID22458560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:146684560..146684618hg38UCSC Ensembl
chr2:147442128..147442186hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901399
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400690
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