A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548415



Internal ID322171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38082383..38082430hg38UCSC Ensembl
chr4:38084004..38084051hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948828
Samples
Known GenesTBC1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548415
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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