A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979003



Internal ID53376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11063942..11063993hg38UCSC Ensembl
chr6:11064175..11064226hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398296
Supporting Variants
Samples
Known GenesELOVL2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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