A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727041



Internal ID150707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42084951..42084984hg38UCSC Ensembl
chr21:43505061..43505094hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385709
hg195709
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563102
Supporting Variants
Samples
Known GenesUMODL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727041
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009997


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