A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242275



Internal ID22046885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36009093..36009093hg38UCSC Ensembl
chr1:36474694..36474694hg19UCSC Ensembl
Cytoband1p34.3
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 Variantsnssv17848565
Samples
Known GenesAGO3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242275
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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