A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263768



Internal ID22134324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152462293..152474733hg38UCSC Ensembl
Outerchr1:152434769..152447209hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384401
hg194401
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215933
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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