A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271347



Internal ID22138327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32668628..32675054hg38UCSC Ensembl
Outerchr3:32710120..32716546hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg382563
hg192563
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217887
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271347
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