A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16984895



Internal ID57316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50093636..50093687hg38UCSC Ensembl
chr6:50061349..50061400hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397574
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16984895
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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