A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988978



Internal ID60075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149315858..149315909hg38UCSC Ensembl
chr6:149636994..149637045hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402282
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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