A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985320



Internal ID21894663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104404981..104405036hg38UCSC Ensembl
chr2:105021439..105021494hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534003
Samples
Known GenesLOC100287010
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985320
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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