A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253286



Internal ID22057896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206682234..206682234hg38UCSC Ensembl
chr2:207546958..207546958hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851114
Samples
Known GenesDYTN
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253286
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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