A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216026



Internal ID22362158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153227134..153268701hg38UCSC Ensembl
Outerchr1:153199610..153241177hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277603
SamplesHG00732
Known GenesLOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216026
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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