A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250255



Internal ID22054865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48333146..48333146hg38UCSC Ensembl
chr16:48367057..48367057hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847203
Samples
Known GenesLONP2, MIR548AE2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250255
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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