A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988659



Internal ID21898002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241762995..241806711hg38UCSC Ensembl
chr2:242702410..242745051hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3843717
hg1942642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533112
Samples
Known GenesD2HGDH, GAL3ST2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988659
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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