A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213738



Internal ID22360589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:42792629..42798449hg38UCSC Ensembl
Outerchr2:43019769..43025589hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265796
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213738
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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