A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274629



Internal ID22140311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178583020..178594900hg38UCSC Ensembl
Outerchr5:178010021..178021901hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3810121
hg1910121
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213929
Supporting Variants
SamplesHG00513
Known GenesCOL23A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274629
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