A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543957



Internal ID318161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:98814969..98814969hg38UCSC Ensembl
chr13:99467223..99467223hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692550
Samples
Known GenesDOCK9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543957
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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