A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453644



Internal ID231759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238009366..238009419hg38UCSC Ensembl
chr2:238918008..238918061hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927068
Samples
Known GenesUBE2F, UBE2F-SCLY
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453644
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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