A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244970



Internal ID22049580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151744970..151744970hg38UCSC Ensembl
chr5:151124531..151124531hg19UCSC Ensembl
Cytoband5q33.1
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 Variantsnssv17858584
Samples
Known GenesATOX1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244970
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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