A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989176



Internal ID21898519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43512242..43515404hg38UCSC Ensembl
chr2:43739381..43742543hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383163
hg193163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525061
Samples
Known GenesTHADA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989176
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