A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216507



Internal ID22362482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:105553450..105580283hg38UCSC Ensembl
Outerchr1:106096072..106122905hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274384
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216507
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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