A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240241



Internal ID22374647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:17473786..17481049hg38UCSC Ensembl
Outerchr10:17515785..17523048hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253503, nssv14253504
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240241
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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