A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242916



Internal ID22375424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60307790..60315531hg38UCSC Ensembl
Outerchr20:58882848..58890589hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381718
hg191718
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267015
SamplesNA19240
Known GenesLOC284757
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242916
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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