A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250484



Internal ID22055094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81452925..81452925hg38UCSC Ensembl
chr16:81486530..81486530hg19UCSC Ensembl
Cytoband16q23.2
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 Variantsnssv17847331
Samples
Known GenesCMIP
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250484
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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