A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252070



Internal ID22056680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30500783..30500783hg38UCSC Ensembl
chr22:30896770..30896770hg19UCSC Ensembl
Cytoband22q12.2
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 Variantsnssv17851779
Samples
Known GenesSEC14L4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252070
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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