A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215933



Internal ID22362095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152462293..152474733hg38UCSC Ensembl
Outerchr1:152434769..152447209hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg385957
hg195957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263768, nssv14263769, nssv14271988
SamplesHG00512, NA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215933
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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