A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271804



Internal ID22152216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:20689601..20713288hg38UCSC Ensembl
Outerchr3:20731093..20754780hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg385949
hg195949
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216325
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271804
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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