A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213703



Internal ID22360568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26574878..26576001hg38UCSC Ensembl
Outerchr2:26797746..26798869hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266843
SamplesNA19239
Known GenesC2orf70
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213703
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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