A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423963



Internal ID202968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78016534..78016585hg38UCSC Ensembl
chr13:78590669..78590720hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693232
Samples
Known GenesLINC00446
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423963
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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