A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258618



Internal ID22063228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234417962..234417962hg38UCSC Ensembl
chr1:234553708..234553708hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845121
Samples
Known GenesTARBP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258618
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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