A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944954



Internal ID30635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192295852..192295888hg38UCSC Ensembl
chr3:192013641..192013677hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536036
Supporting Variants
Samples
Known GenesFGF12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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