A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425798



Internal ID204751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78790381..78790432hg38UCSC Ensembl
chr13:79364516..79364567hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693283
Samples
Known GenesLINC00331
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425798
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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