A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216097



Internal ID22362208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228512908..228517146hg38UCSC Ensembl
Outerchr1:228700609..228704847hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg387244
hg197244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265099
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216097
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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