A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709008



Internal ID132674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:51603863..51603914hg38UCSC Ensembl
chr16:51637774..51637825hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425983
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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