A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229148



Internal ID22371086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240103446..240193395hg38UCSC Ensembl
Outerchr2:241042863..241132812hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267451
SamplesHG00732
Known GenesMYEOV2, OTOS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229148
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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