A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247542



Internal ID22376747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5364465..5381726hg38UCSC Ensembl
Outerchr10:5406428..5423689hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv762n152
Supporting Variantsnssv14253827, nssv14253831, nssv14253828, nssv14253829, nssv14253830
SamplesHG00512, HG00731, HG00732, HG00513, HG00514
Known GenesUCN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247542
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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