A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234770



Internal ID22373120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68210617..68241535hg38UCSC Ensembl
Outerchr10:69970374..70001292hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253743, nssv14253744
SamplesNA19239, NA19240
Known GenesATOH7, MYPN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234770
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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