A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421833



Internal ID22479703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1026082..1026286hg38UCSC Ensembl
chr4:1019870..1020074hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5902324
Supporting Variants
Samples
Known GenesFGFRL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421833
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.076


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