A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550316



Internal ID323884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42013904..42013955hg38UCSC Ensembl
chr13:42588040..42588091hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687199
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550316
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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