A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451990



Internal ID230153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213387958..213389349hg38UCSC Ensembl
chr2:214252682..214254073hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923779
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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