A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449253



Internal ID227494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213718284..213721773hg38UCSC Ensembl
chr2:214583008..214586497hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383490
hg193490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv293n206
Supporting Variantsnssv16924886
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449253
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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