A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273494



Internal ID22198113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:30501561..30554780hg38UCSC Ensembl
Outerchr4:30503183..30556402hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg382660
hg192660
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212433
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273494
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer