A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271374



Internal ID22132423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38056102..38092686hg38UCSC Ensembl
Outerchr3:38097593..38134177hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225315
Supporting Variants
SamplesHG00513
Known GenesDLEC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271374
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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