A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3929089



Internal ID21349160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46753337..46753337hg38UCSC Ensembl
chr19:47256594..47256594hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15186542
SamplesHG002
Known GenesFKRP
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3929089
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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