A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980596



Internal ID21889939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110013475..110013642hg38UCSC Ensembl
chr1:110556097..110556264hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532517
Samples
Known GenesAHCYL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980596
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