A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3943229



Internal ID21363298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2080410..2080410hg38UCSC Ensembl
chr4:2082137..2082137hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15189379
SamplesHG002
Known GenesPOLN
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3943229
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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