A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706016



Internal ID129682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56416106..56416157hg38UCSC Ensembl
chr16:56450018..56450069hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428286
Supporting Variants
Samples
Known GenesAMFR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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