A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445791



Internal ID224133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213555342..213555404hg38UCSC Ensembl
chr2:214420066..214420128hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923793
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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