A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760083



Internal ID20535943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49700988..49700988hg38UCSC Ensembl
chr19:50204245..50204245hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290956
Samples
Known GenesCPT1C
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760083
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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