A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706376



Internal ID130042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3587690..3587720hg38UCSC Ensembl
chr16:3637691..3637721hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424863
Supporting Variants
Samples
Known GenesSLX4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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