A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17521436



Internal ID21845795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241766988..241767219hg38UCSC Ensembl
chr2:242706403..242706634hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5988556
Supporting Variants
Samples
Known GenesD2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17521436
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