A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982333



Internal ID55570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25671830..25671881hg38UCSC Ensembl
chr6:25672058..25672109hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402323
Supporting Variants
Samples
Known GenesSCGN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982333
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00281


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