A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234394



Internal ID22373013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:67464531..67484473hg38UCSC Ensembl
Outerchr10:69224289..69244231hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253402, nssv14253401
SamplesHG00512, HG00514
Known GenesCTNNA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234394
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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