A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17855715



Internal ID22039358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69285415..69285415hg38UCSC Ensembl
chr3:69334566..69334566hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6254168
Supporting Variants
Samples
Known GenesFRMD4B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17855715
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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