A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3949382



Internal ID21369453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204274150..204274150hg38UCSC Ensembl
chr2:205138873..205138873hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15188066
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3949382
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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