A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3930819



Internal ID21350888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49702007..49702007hg38UCSC Ensembl
chr19:50205264..50205264hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15186994
SamplesHG002
Known GenesCPT1C
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3930819
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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