A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273246



Internal ID22184444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161414450..161447448hg38UCSC Ensembl
Outerchr1:161384240..161417238hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3822680
hg1922680
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225825
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273246
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