A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243331



Internal ID22375539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:67030785..67050648hg38UCSC Ensembl
Outerchr10:68790543..68810406hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381534
hg191534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253399, nssv14253400
SamplesHG00512, HG00514
Known GenesCTNNA3, LRRTM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243331
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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