A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903896



Internal ID22679068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238002834..238007323hg38UCSC Ensembl
chr2:238911476..238915965hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384490
hg194490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392644
Samples
Known GenesUBE2F, UBE2F-SCLY
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903896
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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