A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985074



Internal ID21894417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100278101..100281308hg38UCSC Ensembl
chr2:100894563..100897770hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383208
hg193208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522977
Samples
Known GenesLONRF2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985074
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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