A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558674



Internal ID331731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35566745..35566796hg38UCSC Ensembl
chr13:36140882..36140933hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686853
Samples
Known GenesMIR548F5, NBEA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558674
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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