A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3944302



Internal ID21364371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50094219..50094219hg38UCSC Ensembl
chr20:48710756..48710756hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15188194
SamplesHG002
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3944302
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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