A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244437



Internal ID22049047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80630764..80630764hg38UCSC Ensembl
chr5:79926583..79926583hg19UCSC Ensembl
Cytoband5q14.1
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 Variantsnssv17858162
Samples
Known GenesDHFR
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244437
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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