A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988854



Internal ID59994
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 StatusS
Merged Variantsnsv5558141
Supporting Variants
Samples
Known GenesDCBLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001874


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