A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229369



Internal ID22371239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:219954857..219973354hg38UCSC Ensembl
Outerchr1:220128199..220146696hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381564
hg191564
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265888, nssv14265889, nssv14265886, nssv14265891, nssv14265890, nssv14265885, nssv14265887
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEPRS, RNU5F-1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229369
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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