A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283355



Internal ID22132597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34742629..34742629hg38UCSC Ensembl
chr18:32322593..32322593hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561002
Supporting Variants
SamplesHG00513
Known GenesDTNA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283355
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