A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452121



Internal ID230283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42252504..42255115hg38UCSC Ensembl
chr2:42479644..42482255hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382612
hg192612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912241
Samples
Known GenesEML4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452121
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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