A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6255448



Internal ID22060058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143458233..143458233hg38UCSC Ensembl
chr4:144379386..144379386hg19UCSC Ensembl
Cytoband4q31.21
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 Variantsnssv17856061
Samples
Known GenesGAB1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6255448
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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