A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6255949



Internal ID22060559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9181512..9181512hg38UCSC Ensembl
chr5:9181624..9181624hg19UCSC Ensembl
Cytoband5p15.31
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 Variantsnssv17857141
Samples
Known GenesSEMA5A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6255949
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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