A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274217



Internal ID22140445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48266498..48297841hg38UCSC Ensembl
Outerchr4:48268515..48299858hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222369
Supporting Variants
SamplesHG00513
Known GenesTEC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274217
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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