A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559622



Internal ID332651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109153990..109154041hg38UCSC Ensembl
chr6:109475193..109475244hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986362
Samples
Known GenesCEP57L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559622
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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