A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988556



Internal ID21897899
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 StatusM
Merged Variants
Supporting Variantsnssv17521436
Samples
Known GenesD2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988556
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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