A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012659



Internal ID76111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56383831..56383835hg38UCSC Ensembl
chr8:57296390..57296394hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408741
Supporting Variants
Samples
Known GenesSDR16C6P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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