A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450487



Internal ID228693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71570905..71571636hg38UCSC Ensembl
chr2:71798035..71798766hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916108
Samples
Known GenesDYSF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450487
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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