A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978998



Internal ID53373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11051520..11051520hg38UCSC Ensembl
chr6:11051753..11051753hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405851
Supporting Variants
Samples
Known GenesELOVL2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978998
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.217451


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