A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944944



Internal ID30628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192219000..192279574hg38UCSC Ensembl
chr3:191936789..191997363hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3860575
hg1960575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140287
Supporting Variants
Samples
Known GenesFGF12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944944
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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