A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3945558



Internal ID21365627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14841725..14841725hg38UCSC Ensembl
chr11:14863271..14863271hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190806
SamplesHG002
Known GenesPDE3B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3945558
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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