A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290956



Internal ID20500174
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 StatusS
Merged Variantsnsv4760083
Supporting Variants
Samples
Known GenesCPT1C
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290956
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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