A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845072



Internal ID22028715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78517527..78517527hg38UCSC Ensembl
chr13:79091662..79091662hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6249342
Supporting Variants
Samples
Known GenesRNF219-AS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845072
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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