A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17520586



Internal ID21844945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47932004..47932141hg38UCSC Ensembl
chr2:48159143..48159280hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5989428
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17520586
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