A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929199



Internal ID20173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16368175..16368175hg38UCSC Ensembl
chr3:16409682..16409682hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540648
Supporting Variants
Samples
Known GenesRFTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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