A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558141



Internal ID331214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117496242..117496293hg38UCSC Ensembl
chr6:117817405..117817456hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988854
Samples
Known GenesDCBLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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