A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6249343



Internal ID22053953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78627319..78627319hg38UCSC Ensembl
chr13:79201454..79201454hg19UCSC Ensembl
Cytoband13q31.1
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 Variantsnssv17845073
Samples
Known GenesRNF219
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6249343
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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